{"id":2491,"date":"2025-03-24T12:41:10","date_gmt":"2025-03-24T12:41:10","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/?page_id=2491"},"modified":"2025-04-02T14:40:28","modified_gmt":"2025-04-02T14:40:28","slug":"%e7%a7%91%e5%ad%a6%e5%87%ba%e7%89%88%e7%89%a9","status":"publish","type":"page","link":"https:\/\/www.centogene.com\/jp\/resources\/scientific-publications\/","title":{"rendered":"\u79d1\u5b66\u51fa\u7248\u7269"},"content":{"rendered":"<section class=\"bloque-banner-titulo-page  estilo-bgimage-dark\" id=\"\">\r\n    \r\n    <div class=\"image-wrapper\">\r\n\r\n      <!-- include mp4 video on a loop -->\r\n              <img decoding=\"async\" class=\"\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/csm_centogene-revolutionising-genetic-solutions_why-choose-header_889fbcb66f.webp\" alt=\"csm_centogene-revolutionising-genetic-solutions_why-choose-header_889fbcb66f\" \/>\r\n          <\/div>\r\n    <div class=\"container content-wrapper\">\r\n      <div class=\"row justify-content-start align-items-center\">\r\n\r\n\r\n        <div class=\"col-12 col-lg-6 animation fadeTop align-self-center\">\r\n                  <h1>\u79d1\u5b66\u51fa\u7248\u7269<\/h1>\r\n          <h2 class=\"bl-texto\">\u6700\u65b0\u306e\u79d1\u5b66\u7684\u767a\u898b\u306b\u8208\u5473\u304c\u3042\u308a\u307e\u3059\u304b\uff1f<\/h2>                            <\/div>\r\n\r\n      <\/div>\r\n    <\/div>\r\n\r\n<\/section>\r\n<div class=\"breadcrumbs\">\r\n    <div class=\"container\">\r\n      <div class=\"row\">\r\n        <div class=\"col-12\">\r\n          <ul id=\"breadcrumbs\" class=\"breadcrumbs\"><li><a href=\"https:\/\/www.centogene.com\/jp\/\">\u5bb6<\/a><\/li><\/ul>        <\/div>\r\n      <\/div>\r\n    <\/div>\r\n<\/div>\r\n\r\n\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    transparente-my\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n  <section class=\"bloque-personalizado bloque-noticias bloque-publicaciones\"  id=\"publicationsblock\"> \n\n    <div class=\"row mb-4\">\n      <div class=\"col-12 col-md-3\">\n        <form action=\"#publicationsblock\" method=\"get\" class=\"form-inline\" data-trp-original-action=\"#publicationsblock\">\n\n        <select class=\"form-select\" id=\"topic-filter\" name=\"topic\" onchange=\"this.form.submit()\">\n          <option value=\"\">\u30c8\u30d4\u30c3\u30af\u3067\u7d5e\u308a\u8fbc\u3080<\/option>\n\n                      <option value=\"biodatabank\" >\u30d0\u30a4\u30aa\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9<\/option>\n                      <option value=\"osteology\" >\u9aa8\u5b66<\/option>\n                      <option value=\"covid-19-testing\" >\u65b0\u578b\u30b3\u30ed\u30ca\u30a6\u30a4\u30eb\u30b9\u691c\u67fb<\/option>\n                      <option value=\"pneumology\" >\u547c\u5438\u5668\u79d1<\/option>\n                      <option value=\"ngs\" >NGS<\/option>\n                      <option value=\"immunology\" >\u514d\u75ab\u5b66<\/option>\n                      <option value=\"centocard\" >CentoCard\u00ae<\/option>\n                      <option value=\"rna\" >RNA<\/option>\n                      <option value=\"ear-nose-throat\" >\u8033\u9f3b\u54bd\u5589\u79d1<\/option>\n                      <option value=\"pharma\" >\u88fd\u85ac<\/option>\n                      <option value=\"reproductive-health\" >\u751f\u6b96\u533b\u7642<\/option>\n                      <option value=\"multiomics\" >\u30de\u30eb\u30c1\u30aa\u30df\u30af\u30b9<\/option>\n                      <option value=\"cma\" >CMA<\/option>\n                      <option value=\"dysmorphology\" >\u5f62\u614b\u7570\u5e38\u5b66<\/option>\n                      <option value=\"biomarker\" >\u30d0\u30a4\u30aa\u30de\u30fc\u30ab\u30fc<\/option>\n                      <option value=\"dermatology\" >\u76ae\u819a\u79d1<\/option>\n                      <option value=\"hematology\" >\u8840\u6db2\u5b66<\/option>\n                      <option value=\"cardiovascular\" >\u5fc3\u8840\u7ba1<\/option>\n                      <option value=\"hepatology\" >\u809d\u81d3\u75c5\u5b66<\/option>\n                      <option value=\"oncology\" >\u816b\u760d\u5b66<\/option>\n                      <option value=\"metabolic-disorders\" >\u4ee3\u8b1d\u969c\u5bb3<\/option>\n                      <option value=\"tandem-mass-spectometry\" >\u30bf\u30f3\u30c7\u30e0\u8cea\u91cf\u5206\u6790\u6cd5<\/option>\n                      <option value=\"neurology\" >\u795e\u7d4c\u5b66<\/option>\n                      <option value=\"nephrology\" >\u814e\u81d3\u75c5\u5b66<\/option>\n                      <option value=\"ophthalmology\" >\u773c\u79d1<\/option>\n                      <option value=\"endocrinology\" >\u5185\u5206\u6ccc\u5b66<\/option>\n                      <option value=\"wes\" >\u30a6\u30a7\u30b9<\/option>\n                      <option value=\"brca-1-2\" >BRCA 1\/2<\/option>\n                      <option value=\"wgs\" >WGS<\/option>\n                      <option value=\"hereditary-cancer\" >\u907a\u4f1d\u6027\u764c<\/option>\n                  <\/select>\n          <input type=\"hidden\" name=\"trp-form-language\" value=\"jp\"\/><\/form>\n      <\/div>\n    <\/div>\n    <div  class=\"row\">\n            <article class=\"item-noticia\">\n          <div class=\"row bl-texto\">\n            <div class=\"col-md-8 col-12\">       \n                       \n              <h4 class=\"bl-titulo\">\u795e\u7d4c\u75be\u60a3\u306e\u65b0\u305f\u306a\u907a\u4f1d\u7684\u539f\u56e0<\/h4>\n              <p><strong>BLOC1S1\u907a\u4f1d\u5b50\u5909\u7570\u306f\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u304a\u3088\u3073\u30aa\u30fc\u30c8\u30d5\u30a1\u30b8\u30fc\u306e\u6b20\u9665\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3092\u4f34\u3046\u4f4e\u9ac4\u9798\u5f62\u6210\u6027\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3092\u767a\u75c7\u3055\u305b\u308b\u3002<\/strong><\/p>\n              <p>\u907a\u4f1d\u5b66\u7684\u3001\u81e8\u5e8a\u7684\u3001\u6a5f\u80fd\u7684\u306a\u8a3c\u62e0\u306b\u57fa\u3065\u304d\u3001BLOC1S1\u306e\u6a5f\u80fd\u55aa\u5931\u304c\u3001\u9855\u8457\u306a\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3092\u7279\u5fb4\u3068\u3059\u308b\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u795e\u7d4c\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u3092\u5b9f\u8a3c\u3057\u307e\u3057\u305f\u3002\u3053\u306e\u7814\u7a76\u7d50\u679c\u306f\u3001\u30d5\u30a3\u30e9\u30c7\u30eb\u30d5\u30a3\u30a2\u5c0f\u5150\u75c5\u9662\u304a\u3088\u3073\u4e16\u754c\u5404\u5730\u306e\u8907\u6570\u306e\u7814\u7a76\u6a5f\u95a2\u3068\u306e\u5171\u540c\u7814\u7a76\u306b\u3088\u308a\u3001\u6a29\u5a01\u3042\u308b\u5b66\u8853\u8a8c\u300cAmerican Journal of Human Genetics\u300d\u306b\u63b2\u8f09\u3055\u308c\u308b\u4e88\u5b9a\u3067\u3059\u3002\u7814\u7a76\u5bfe\u8c61\u3068\u306a\u3063\u305f7\u5bb6\u65cf\u306e\u3046\u30614\u5bb6\u65cf\u306f\u3001\u30dd\u30eb\u30c8\u30ac\u30eb\u3001\u30c8\u30eb\u30b3\u3001\u30b5\u30a6\u30b8\u30a2\u30e9\u30d3\u30a2\u51fa\u8eab\u3067\u3001CENTOGENE\u3067\u7279\u5b9a\u3055\u308c\u307e\u3057\u305f\u3002. <\/p>\n              <div class=\"bl-topics\"><a href=\"https:\/\/www.centogene.com\/jp\/topic\/neurology\/\" class=\"cat-link\">\u795e\u7d4c\u5b66<\/a><\/div>      \n            <\/div>\n            <div class=\"bl-datos col-md-4 col-12\">\n                              <div class=\"bl-autores\">\n                \u8457\u8005: Bertoli-Avella\u3001Aida M.\u3001MD                <\/div>\n                            <div class=\"bl-fecha\">\n                 <time class=\"updated\" datetime=\"2026-03-17\" pubdate>17 2026\u5e743\u6708<\/time>               <\/div>\n                              \n                <a href=\"https:\/\/www.cell.com\/ajhg\/abstract\/S0002-9297(26)00110-2\" rel=\"bookmark\" title=\"\u795e\u7d4c\u75be\u60a3\u306e\u65b0\u305f\u306a\u907a\u4f1d\u7684\u539f\u56e0\" class=\"btn btn-2\" target=\"_blank\">\u51fa\u7248\u7269\u3092\u8aad\u3080 <\/a>\n                          <\/div>\n          <\/div>\n        <\/article>\n              <article class=\"item-noticia\">\n          <div class=\"row bl-texto\">\n            <div class=\"col-md-8 col-12\">       \n                       \n              <h4 class=\"bl-titulo\">\u907a\u4f1d\u5b50\u8a3a\u65ad\u306b\u304a\u3051\u308b\u6b21\u306e\u30b9\u30c6\u30c3\u30d7\u3068\u3057\u3066\u306eRNA\u30b7\u30fc\u30b1\u30f3\u30b9<\/h4>\n              <p><strong>\u30de\u30eb\u30c1\u30aa\u30df\u30af\u30b9\u8a3a\u65ad\u306e\u5a01\u529b\u3092\u4f53\u9a13\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u30b2\u30ce\u30e0\u691c\u67fb\u306b\u4f7f\u7528\u3057\u305f\u4e7e\u71e5\u8840\u6db2\u30b9\u30dd\u30c3\u30c8\u30b5\u30f3\u30d7\u30eb\u3068\u540c\u3058\u3082\u306e\u3092\u7528\u3044\u3066\u3001RNA\u30b7\u30fc\u30b1\u30f3\u30b9\u89e3\u6790\u3092\u5b9f\u65bd\u3057\u307e\u3057\u305f\u3002.<\/strong><\/p>\n              <p>\u30de\u30eb\u30c1\u30aa\u30df\u30af\u30b9\u8a3a\u65ad\u306e\u5a01\u529b\u3092\u4f53\u611f\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u30b2\u30ce\u30e0\u691c\u67fb\u306b\u4f7f\u7528\u3057\u305f\u4e7e\u71e5\u8840\u6db2\u30b9\u30dd\u30c3\u30c8\u30b5\u30f3\u30d7\u30eb\u3068\u540c\u3058\u3082\u306e\u3092\u7528\u3044\u3066RNA\u30b7\u30fc\u30b1\u30f3\u30b9\u89e3\u6790\u3092\u5b9f\u65bd\u3057\u307e\u3057\u305f\u3002\u3053\u306e\u52b9\u7387\u7684\u306a\u30a2\u30d7\u30ed\u30fc\u30c1\u306b\u3088\u308a\u3001\u95a2\u9023\u3059\u308b\u975e\u30b3\u30fc\u30c9\u9818\u57df\u306e\u5909\u7570\u306e\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\u52b9\u679c\u3092\u660e\u78ba\u306b\u3057\u3001\u3088\u308a\u5305\u62ec\u7684\u306a\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u63d0\u4f9b\u3059\u308b\u3053\u3068\u3067\u3001\u65e5\u5e38\u7684\u306a\u8a3a\u65ad\u7cbe\u5ea6\u3092\u5411\u4e0a\u3055\u305b\u307e\u3059\u3002.<\/p>\n              <div class=\"bl-topics\"><a href=\"https:\/\/www.centogene.com\/jp\/topic\/multiomics\/\" class=\"cat-link\">\u30de\u30eb\u30c1\u30aa\u30df\u30af\u30b9<\/a><a href=\"https:\/\/www.centogene.com\/jp\/topic\/rna\/\" class=\"cat-link\">RNA<\/a><\/div>      \n            <\/div>\n            <div class=\"bl-datos col-md-4 col-12\">\n                              <div class=\"bl-autores\">\n                \u8457\u8005: Bertoli-Avella\u3001Aida M.\u3001MD                <\/div>\n                            <div class=\"bl-fecha\">\n                 <time class=\"updated\" datetime=\"2025-01-28\" pubdate>28 2025\u5e741\u6708<\/time>               <\/div>\n                              \n                <a href=\"https:\/\/link.springer.com\/article\/10.1038\/s41431-025-01792-2\" rel=\"bookmark\" title=\"\u907a\u4f1d\u5b50\u8a3a\u65ad\u306b\u304a\u3051\u308b\u6b21\u306e\u30b9\u30c6\u30c3\u30d7\u3068\u3057\u3066\u306eRNA\u30b7\u30fc\u30b1\u30f3\u30b9\" class=\"btn btn-2\" target=\"_blank\">\u51fa\u7248\u7269\u3092\u8aad\u3080 <\/a>\n                          <\/div>\n          <\/div>\n        <\/article>\n              <article class=\"item-noticia\">\n          <div class=\"row bl-texto\">\n            <div class=\"col-md-8 col-12\">       \n                       \n              <h4 class=\"bl-titulo\">\u907a\u4f1d\u6027\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5\u306e\u6839\u5e95\u306b\u3042\u308b\u30e1\u30ab\u30cb\u30ba\u30e0\u306e\u89e3\u660e<\/h4>\n              <p><strong>\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5\u306b\u95a2\u3059\u308b\u8ad6\u6587\uff1a\u30a2\u30d5\u30ea\u30ab\u7cfb\u7956\u5148\u7531\u6765\u306e\u795e\u7d4c\u5909\u6027\u30ea\u30b9\u30af\u5909\u7570\u306f\u3001GBA1\u907a\u4f1d\u5b50\u306e\u30a4\u30f3\u30c8\u30ed\u30f3\u5206\u5c90\u70b9\u3092\u7834\u58ca\u3059\u308b\u3002.<\/strong><\/p>\n              <p>GBA1\u907a\u4f1d\u5b50\u5909\u7570\u304c\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5\uff08PD\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059\u30e1\u30ab\u30cb\u30ba\u30e0\u306f\u3001\u307e\u3060\u5b8c\u5168\u306b\u306f\u89e3\u660e\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u30de\u30a4\u30b1\u30eb\u30fbJ\u30fb\u30d5\u30a9\u30c3\u30af\u30b9\u8ca1\u56e3\u306e\u652f\u63f4\u3092\u53d7\u3051\u305fCENTOGENE\u30d7\u30ed\u30b8\u30a7\u30af\u30c8\u306f\u3001\u3054\u304f\u6700\u8fd1\u767a\u898b\u3055\u308c\u305f\u73cd\u3057\u3044GBA1\u907a\u4f1d\u5b50\u5909\u7570\u306b\u95a2\u3059\u308b\u77e5\u898b\u3092\u5f97\u307e\u3057\u305f\u3002\u3053\u306e\u7814\u7a76\u6210\u679c\u306f\u3001\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240\uff08NIH\uff09\u306e\u7814\u7a76\u8005\u3068\u306e\u5171\u540c\u7814\u7a76\u306b\u3088\u308a\u3001\u30cd\u30a4\u30c1\u30e3\u30fc\u30fb\u30d1\u30d6\u30ea\u30c3\u30b7\u30f3\u30b0\u30fb\u30b0\u30eb\u30fc\u30d7\u304c\u767a\u884c\u3059\u308b\u6a29\u5a01\u3042\u308b\u5b66\u8853\u8a8c\u300cNature Structural &amp; Molecular Biology\u300d\u306b\u63b2\u8f09\u3055\u308c\u307e\u3057\u305f\u3002.<\/p>\n              <div class=\"bl-topics\"><a href=\"https:\/\/www.centogene.com\/jp\/topic\/neurology\/\" class=\"cat-link\">\u795e\u7d4c\u5b66<\/a><a href=\"https:\/\/www.centogene.com\/jp\/topic\/rna\/\" class=\"cat-link\">RNA<\/a><\/div>      \n            <\/div>\n            <div class=\"bl-datos col-md-4 col-12\">\n                              <div class=\"bl-autores\">\n                \u8457\u8005\uff1a\u30de\u30f3\u30c7\u30a3\u30fb\u30e9\u30c7\u30d5\u30a7\u30eb\u30c8                <\/div>\n                            <div class=\"bl-fecha\">\n                 <time class=\"updated\" datetime=\"2024-12-12\" pubdate>2024\u5e7412\u670812\u65e5<\/time>               <\/div>\n                              \n                <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39668204\/\" rel=\"bookmark\" title=\"\u907a\u4f1d\u6027\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5\u306e\u6839\u5e95\u306b\u3042\u308b\u30e1\u30ab\u30cb\u30ba\u30e0\u306e\u89e3\u660e\" class=\"btn btn-2\" target=\"_blank\">\u51fa\u7248\u7269\u3092\u8aad\u3080 <\/a>\n                          <\/div>\n          <\/div>\n        <\/article>\n              <article class=\"item-noticia\">\n          <div class=\"row bl-texto\">\n            <div class=\"col-md-8 col-12\">       \n                       \n              <h4 class=\"bl-titulo\">1\u3064\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304b\u3089\u751f\u3058\u308b2\u3064\u306e\u7570\u306a\u308b\u75be\u60a3<\/h4>\n              <p><strong>\u8ad6\u6587\uff1aNTRK2\u306e\u767a\u73fe\u4ea2\u9032\u3068\u6a5f\u80fd\u55aa\u5931\u306f\u300144\u4eba\u306e\u7f79\u60a3\u8005\u306b\u304a\u3044\u30662\u3064\u306e\u7570\u306a\u308b\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3059<\/strong><\/p>\n              <p>\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u901a\u5e38\u3001\u5358\u4e00\u306e\u907a\u4f1d\u6027\u75be\u60a3\u3068\u95a2\u9023\u4ed8\u3051\u3089\u308c\u308b\u3002\u3057\u304b\u3057\u3001\u767a\u8868\u3055\u308c\u305f\u75c7\u4f8b\u5831\u544a\u3068CENTOGENE\u306e\u4ed6\u306b\u985e\u3092\u898b\u306a\u3044\u5927\u898f\u6a21\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u306e\u30c7\u30fc\u30bf\u3092\u7d71\u5408\u7684\u306b\u89e3\u6790\u3057\u305f\u7d50\u679c\u3001NTRK2\u907a\u4f1d\u5b50\u306f2\u3064\u306e\u7570\u306a\u308b\u75be\u60a3\u3068\u95a2\u9023\u4ed8\u3051\u3089\u308c\u308b\u3068\u3044\u3046\u7a00\u306a\u4f8b\u5916\u3067\u3042\u308b\u3053\u3068\u304c\u660e\u3089\u304b\u306b\u306a\u3063\u305f\u3002\u3053\u306e\u767a\u898b\u306f\u3001\u3053\u306e\u5206\u91ce\u306b\u304a\u3051\u308b\u4e3b\u8981\u306a\u5b66\u8853\u8a8c\u3067\u3042\u308bGenetics in Medicine\u306b\u63b2\u8f09\u3055\u308c\u305f\u3002.<\/p>\n              <div class=\"bl-topics\"><a href=\"https:\/\/www.centogene.com\/jp\/topic\/neurology\/\" class=\"cat-link\">\u795e\u7d4c\u5b66<\/a><\/div>      \n            <\/div>\n            <div class=\"bl-datos col-md-4 col-12\">\n                              <div class=\"bl-autores\">\n                \u8457\u8005\uff1a\u30be\u30cb\u30c3\u30af\u3001\u30a8\u30df\u30fc\u30eb                <\/div>\n                            <div class=\"bl-fecha\">\n                 <time class=\"updated\" datetime=\"2024-11-11\" pubdate>2024 \u5e74 11 \u6708 11 \u65e5<\/time>               <\/div>\n                              \n                <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39540377\/\" rel=\"bookmark\" title=\"1\u3064\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304b\u3089\u751f\u3058\u308b2\u3064\u306e\u7570\u306a\u308b\u75be\u60a3\" class=\"btn btn-2\" target=\"_blank\">\u51fa\u7248\u7269\u3092\u8aad\u3080 <\/a>\n                          <\/div>\n          <\/div>\n        <\/article>\n              <article class=\"item-noticia\">\n          <div class=\"row bl-texto\">\n            <div class=\"col-md-8 col-12\">       \n                       \n              <h4 class=\"bl-titulo\">\u5358\u4e00\u907a\u4f1d\u5b50\u6027\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5\u306e\u65b0\u305f\u306a\u5f62\u614b\u306b\u95a2\u3059\u308b\u7406\u89e3\u306e\u6df1\u5316<\/h4>\n              <p><strong>\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5\u306b\u95a2\u3059\u308b\u51fa\u7248\u7269\uff1aRAB32\u95a2\u9023\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5\u306e\u907a\u4f1d\u5b66\u7684\u304a\u3088\u3073\u75ab\u5b66\u7684\u77e5\u898b<\/strong><\/p>\n              <p>RAB32\u907a\u4f1d\u5b50\u3068\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5\uff08PD\uff09\u3068\u306e\u95a2\u9023\u6027\u306f\u3054\u304f\u6700\u8fd1\u306b\u306a\u3063\u3066\u78ba\u7acb\u3055\u308c\u305f\u3070\u304b\u308a\u3067\u3042\u308a\u3001\u305d\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u306f\u307e\u3060\u5b8c\u5168\u306b\u306f\u89e3\u660e\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u305d\u3053\u3067\u3001CENTOGENE\u793e\u306e\u7814\u7a76\u8005\u3089\u306f\u3001\u540c\u793e\u306e\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u304b\u3089\u95a2\u9023\u30c7\u30fc\u30bf\u3092\u5206\u6790\u3057\u307e\u3057\u305f\u3002RAB32-PD\u306e\u91cd\u8981\u306a\u907a\u4f1d\u5b66\u7684\u304a\u3088\u3073\u75ab\u5b66\u7684\u5074\u9762\u3092\u660e\u3089\u304b\u306b\u3059\u308b\u7814\u7a76\u7d50\u679c\u306f\u3001Movement Disorders\u8a8c\u306b\u63b2\u8f09\u3055\u308c\u307e\u3057\u305f\u3002.<\/p>\n              <div class=\"bl-topics\"><a href=\"https:\/\/www.centogene.com\/jp\/topic\/biodatabank\/\" class=\"cat-link\">\u30d0\u30a4\u30aa\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9<\/a><a href=\"https:\/\/www.centogene.com\/jp\/topic\/neurology\/\" class=\"cat-link\">\u795e\u7d4c\u5b66<\/a><\/div>      \n            <\/div>\n            <div class=\"bl-datos col-md-4 col-12\">\n                              <div class=\"bl-autores\">\n                \u8457\u8005\uff1a\u30de\u30f3\u30c7\u30a3\u30fb\u30e9\u30c7\u30d5\u30a7\u30eb\u30c8                <\/div>\n                            <div class=\"bl-fecha\">\n                 <time class=\"updated\" datetime=\"2024-10-26\" pubdate>2024\u5e7410\u670826\u65e5<\/time>               <\/div>\n                              \n                <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39460989\/\" rel=\"bookmark\" title=\"\u5358\u4e00\u907a\u4f1d\u5b50\u6027\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5\u306e\u65b0\u305f\u306a\u5f62\u614b\u306b\u95a2\u3059\u308b\u7406\u89e3\u306e\u6df1\u5316\" class=\"btn btn-2\" target=\"_blank\">\u51fa\u7248\u7269\u3092\u8aad\u3080 <\/a>\n                          <\/div>\n          <\/div>\n        <\/article>\n              <article class=\"item-noticia\">\n          <div class=\"row bl-texto\">\n            <div class=\"col-md-8 col-12\">       \n                       \n              <h4 class=\"bl-titulo\">\u5927\u898f\u6a21\u907a\u4f1d\u5b50\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u7814\u7a76\u304b\u3089\u306e\u4e88\u5099\u7684\u89b3\u5bdf\u7d50\u679c<\/h4>\n              <p><strong>\u51fa\u7248\u7269\uff1a\u907a\u4f1d\u6027\u30c8\u30e9\u30f3\u30b9\u30b5\u30a4\u30ec\u30c1\u30f3\u95a2\u9023\u30a2\u30df\u30ed\u30a4\u30c9\u30fc\u30b7\u30b9\u9032\u884c\u4e2d\u306e\u89b3\u5bdf\u7814\u7a76 \u2013 \u6700\u521d\u306e3167\u540d\u306e\u53c2\u52a0\u8005\u306e\u30d9\u30fc\u30b9\u30e9\u30a4\u30f3\u5831\u544a<\/strong><\/p>\n              <p>\u5e0c\u5c11\u75be\u60a3\u3092\u5305\u62ec\u7684\u306b\u7406\u89e3\u3059\u308b\u306b\u306f\u3001\u591a\u6570\u306e\u60a3\u8005\u3092\u7279\u5b9a\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002CENTOGENE\u793e\u306f\u30012018\u5e74\u304b\u3089\u907a\u4f1d\u6027\u30c8\u30e9\u30f3\u30b9\u30b5\u30a4\u30ec\u30c1\u30f3\u95a2\u9023\u30a2\u30df\u30ed\u30a4\u30c9\u30fc\u30b7\u30b9\uff08hATTR\uff09\u306b\u95a2\u3059\u308b\u91cd\u8981\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u7814\u7a76\u3092\u5b9f\u65bd\u3057\u3066\u304d\u307e\u3057\u305f\u3002\u6700\u521d\u306e\u7d043,000\u4eba\u306e\u7814\u7a76\u53c2\u52a0\u8005\u306e\u5206\u6790\u306b\u3088\u308a\u3001hATTR\u306b\u95a2\u3059\u308b\u6570\u591a\u304f\u306e\u65b0\u305f\u306a\u77e5\u898b\u304c\u5f97\u3089\u308c\u3001\u305d\u306e\u7814\u7a76\u7d50\u679c\u306f\u300eJournal of Clinical Medicine\u300f\u8a8c\u306b\u63b2\u8f09\u3055\u308c\u307e\u3057\u305f\u3002.<\/p>\n              <div class=\"bl-topics\"><a href=\"https:\/\/www.centogene.com\/jp\/topic\/neurology\/\" class=\"cat-link\">\u795e\u7d4c\u5b66<\/a><a href=\"https:\/\/www.centogene.com\/jp\/topic\/biodatabank\/\" class=\"cat-link\">\u30d0\u30a4\u30aa\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9<\/a><\/div>      \n            <\/div>\n            <div class=\"bl-datos col-md-4 col-12\">\n                              <div class=\"bl-autores\">\n                \u8457\u8005\uff1a\u30b5\u30d3\u30fc\u30cd\u30fb\u30ec\u30b9\u30ca\u30fc                <\/div>\n                            <div class=\"bl-fecha\">\n                 <time class=\"updated\" datetime=\"2024-10-17\" pubdate>17 2024\u5e7410\u6708<\/time>               <\/div>\n                              \n                <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39458146\/\" rel=\"bookmark\" title=\"\u5927\u898f\u6a21\u907a\u4f1d\u5b50\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u7814\u7a76\u304b\u3089\u306e\u4e88\u5099\u7684\u89b3\u5bdf\u7d50\u679c\" class=\"btn btn-2\" target=\"_blank\">\u51fa\u7248\u7269\u3092\u8aad\u3080 <\/a>\n                          <\/div>\n          <\/div>\n        <\/article>\n              <article class=\"item-noticia\">\n          <div class=\"row bl-texto\">\n            <div class=\"col-md-8 col-12\">       \n                       \n              <h4 class=\"bl-titulo\">\u6975\u3081\u3066\u7a00\u306a\u514d\u75ab\u75be\u60a3\u304c\u767a\u898b\u3055\u308c\u308b<\/h4>\n              <p><strong>CBLB\u907a\u4f1d\u5b50\u306e\u30db\u30e2\u63a5\u5408\u6027\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u514d\u75ab\u8abf\u7bc0\u7570\u5e38<\/strong><\/p>\n              <p>\u514d\u75ab\u7cfb\u306e\u6052\u5e38\u6027\u306f\u3001\u4eba\u9593\u306e\u5065\u5eb7\u306b\u3068\u3063\u3066\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002\u6700\u8fd1\u3001CENTOGENE\u306fCENTOGENE\u30d0\u30a4\u30aa\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u306e\u81e8\u5e8a\u30c7\u30fc\u30bf\u3068\u907a\u4f1d\u5b50\u30c7\u30fc\u30bf\u306e\u89e3\u6790\u3092\u5b9f\u65bd\u3057\u3001\u81ea\u5df1\u514d\u75ab\u75be\u60a3\u3068\u518d\u767a\u6027\u5168\u8eab\u611f\u67d3\u75c7\u3092\u7279\u5fb4\u3068\u3059\u308b\u8d85\u5e0c\u5c11\u306a\u514d\u75ab\u8abf\u7bc0\u7570\u5e38\u75c7\u306e\u60a3\u8005\u3092\u7279\u5b9a\u3059\u308b\u3053\u3068\u306b\u6210\u529f\u3057\u307e\u3057\u305f\u3002.<\/p>\n              <div class=\"bl-topics\"><a href=\"https:\/\/www.centogene.com\/jp\/topic\/wes\/\" class=\"cat-link\">\u30a6\u30a7\u30b9<\/a><a href=\"https:\/\/www.centogene.com\/jp\/topic\/biodatabank\/\" class=\"cat-link\">\u30d0\u30a4\u30aa\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9<\/a><a href=\"https:\/\/www.centogene.com\/jp\/topic\/immunology\/\" class=\"cat-link\">\u514d\u75ab\u5b66<\/a><\/div>      \n            <\/div>\n            <div class=\"bl-datos col-md-4 col-12\">\n                              <div class=\"bl-autores\">\n                \u8457\u8005\uff1a\u30e4\u30f3\u30bb\u30f3\u3001\u30a8\u30ea\u30f3                <\/div>\n                            <div class=\"bl-fecha\">\n                 <time class=\"updated\" datetime=\"2022-08-25\" pubdate>25 2022\u5e748\u6708<\/time>               <\/div>\n                              \n                <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/36006710\/\" rel=\"bookmark\" title=\"\u6975\u3081\u3066\u7a00\u306a\u514d\u75ab\u75be\u60a3\u304c\u767a\u898b\u3055\u308c\u308b\" class=\"btn btn-2\" target=\"_blank\">\u51fa\u7248\u7269\u3092\u8aad\u3080 <\/a>\n                          <\/div>\n          <\/div>\n        <\/article>\n              <article class=\"item-noticia\">\n          <div class=\"row bl-texto\">\n            <div class=\"col-md-8 col-12\">       \n                       \n              <h4 class=\"bl-titulo\">\u8cea\u91cf\u5206\u6790\u8102\u8cea\u30aa\u30df\u30af\u30b9\u767e\u79d1\u4e8b\u5178<\/h4>\n              <p><strong>\u8cea\u91cf\u5206\u6790\u6cd5\uff08MS\uff09\u306f\u3001\u8102\u8cea\u306e\u7a2e\u985e\u3092\u540c\u5b9a\u30fb\u5b9a\u91cf\u3059\u308b\u305f\u3081\u306e\u6700\u5148\u7aef\u6280\u8853\u3067\u3059\u3002\u672c\u7814\u7a76\u3067\u306f\u3001\u3053\u306e\u6280\u8853\u3092\u5206\u6790\u3057\u3001\u4e16\u754c\u4e2d\u306e\u60a3\u8005\u306b\u3068\u3063\u3066\u3088\u308a\u826f\u3044\u7814\u7a76\u6210\u679c\u3068\u5065\u5eb7\u72b6\u614b\u306e\u6539\u5584\u3078\u306e\u9053\u3092\u958b\u304f\u3053\u3068\u3092\u76ee\u6307\u3057\u307e\u3057\u305f\u3002.<\/strong><\/p>\n              <p>\u8cea\u91cf\u5206\u6790\u6cd5\uff08MS\uff09\u306f\u3001\u8102\u8cea\u306e\u7a2e\u985e\u3092\u540c\u5b9a\u30fb\u5b9a\u91cf\u3059\u308b\u305f\u3081\u306e\u6700\u5148\u7aef\u6280\u8853\u3067\u3059\u3002\u672c\u7814\u7a76\u3067\u306f\u3001\u3053\u306e\u6280\u8853\u3092\u5206\u6790\u3057\u3001\u4e16\u754c\u4e2d\u306e\u60a3\u8005\u306b\u3068\u3063\u3066\u3088\u308a\u826f\u3044\u7814\u7a76\u6210\u679c\u3068\u5065\u5eb7\u72b6\u614b\u306e\u6539\u5584\u3078\u306e\u9053\u3092\u958b\u304f\u3053\u3068\u3092\u76ee\u6307\u3057\u307e\u3057\u305f\u3002.<\/p>\n              <div class=\"bl-topics\"><a href=\"https:\/\/www.centogene.com\/jp\/topic\/metabolic-disorders\/\" class=\"cat-link\">\u4ee3\u8b1d\u969c\u5bb3<\/a><a href=\"https:\/\/www.centogene.com\/jp\/topic\/biodatabank\/\" class=\"cat-link\">\u30d0\u30a4\u30aa\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9<\/a><a href=\"https:\/\/www.centogene.com\/jp\/topic\/multiomics\/\" class=\"cat-link\">\u30de\u30eb\u30c1\u30aa\u30df\u30af\u30b9<\/a><\/div>      \n            <\/div>\n            <div class=\"bl-datos col-md-4 col-12\">\n                            <div class=\"bl-fecha\">\n                 <time class=\"updated\" datetime=\"2022-06-23\" pubdate>23 2022\u5e746\u6708<\/time>               <\/div>\n                              \n                <a href=\"https:\/\/www.mdpi.com\/2218-1989\/12\/7\/584\/htm\" rel=\"bookmark\" title=\"\u8cea\u91cf\u5206\u6790\u8102\u8cea\u30aa\u30df\u30af\u30b9\u767e\u79d1\u4e8b\u5178\" class=\"btn btn-2\" target=\"_blank\">\u51fa\u7248\u7269\u3092\u8aad\u3080 <\/a>\n                          <\/div>\n          <\/div>\n        <\/article>\n              <article class=\"item-noticia\">\n          <div class=\"row bl-texto\">\n            <div class=\"col-md-8 col-12\">       \n                       \n              <h4 class=\"bl-titulo\">\u60a3\u8005\u306e\u8a3a\u65ad\u3068\u6cbb\u7642\u306e\u52a0\u901f\u5316\u306b\u5411\u3051\u305f\u30de\u30eb\u30c1\u30aa\u30df\u30af\u30b9\u30a2\u30d7\u30ed\u30fc\u30c1<\/h4>\n              <p><strong>\u907a\u4f1d\u6027\u4ee3\u8b1d\u75be\u60a3\u306e\u60a3\u8005\u306b\u5bfe\u3059\u308b\u7b2c\u4e00\u9078\u629e\u306e\u8a3a\u65ad\u30c4\u30fc\u30eb\u3068\u3057\u3066\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3068\u751f\u5316\u5b66\u691c\u67fb\u3092\u7d71\u5408\u3057\u305f\u30a2\u30d7\u30ed\u30fc\u30c1\u3002.<\/strong><\/p>\n              <p>\u907a\u4f1d\u6027\u4ee3\u8b1d\u75be\u60a3\u306e\u60a3\u8005\u306b\u5bfe\u3059\u308b\u7b2c\u4e00\u9078\u629e\u306e\u8a3a\u65ad\u30c4\u30fc\u30eb\u3068\u3057\u3066\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3068\u751f\u5316\u5b66\u691c\u67fb\u3092\u7d71\u5408\u3057\u305f\u30a2\u30d7\u30ed\u30fc\u30c1\u3002.<\/p>\n              <div class=\"bl-topics\"><a href=\"https:\/\/www.centogene.com\/jp\/topic\/biomarker\/\" class=\"cat-link\">\u30d0\u30a4\u30aa\u30de\u30fc\u30ab\u30fc<\/a><a href=\"https:\/\/www.centogene.com\/jp\/topic\/metabolic-disorders\/\" class=\"cat-link\">\u4ee3\u8b1d\u969c\u5bb3<\/a><a href=\"https:\/\/www.centogene.com\/jp\/topic\/multiomics\/\" class=\"cat-link\">\u30de\u30eb\u30c1\u30aa\u30df\u30af\u30b9<\/a><\/div>      \n            <\/div>\n            <div class=\"bl-datos col-md-4 col-12\">\n                              <div class=\"bl-autores\">\n                \u8457\u8005: Bertoli-Avella\u3001Aida M.\u3001MD                <\/div>\n                            <div class=\"bl-fecha\">\n                 <time class=\"updated\" datetime=\"2022-06-22\" pubdate>22 2022\u5e746\u6708<\/time>               <\/div>\n                              \n                <a href=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/CentoMetabolic_MOx_Publication_202206_Web_20220623.pdf\" rel=\"bookmark\" title=\"\u60a3\u8005\u306e\u8a3a\u65ad\u3068\u6cbb\u7642\u306e\u52a0\u901f\u5316\u306b\u5411\u3051\u305f\u30de\u30eb\u30c1\u30aa\u30df\u30af\u30b9\u30a2\u30d7\u30ed\u30fc\u30c1\" class=\"btn btn-2\" target=\"_self\">\u51fa\u7248\u7269\u3092\u8aad\u3080\uff08PDF\uff09<\/a>\n                          <\/div>\n          <\/div>\n        <\/article>\n              <article class=\"item-noticia\">\n          <div class=\"row bl-texto\">\n            <div class=\"col-md-8 col-12\">       \n                       \n              <h4 class=\"bl-titulo\">\u5e0c\u5c11\u75be\u60a3\u60a3\u8005\u306e\u9061\u53ca\u7684\u8a3a\u65ad<\/h4>\n              <p><strong>\u5148\u5929\u6027\u795e\u7d4c\u7b4b\u75be\u60a3\u306b\u304a\u3051\u308bASC-1\u8907\u5408\u4f53\u6a5f\u80fd\u4e0d\u5168\u306e\u3055\u3089\u306a\u308b\u81e8\u5e8a\u7684\u304a\u3088\u3073\u907a\u4f1d\u5b66\u7684\u8a3c\u62e0<\/strong><\/p>\n              <p>\u8a3a\u65ad\u306e\u305f\u3081\u306e\u30a8\u30af\u30bd\u30fc\u30e0\uff0f\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u89e3\u6790\u3092\u884c\u3063\u3066\u3082\u3001\u89e3\u6790\u6642\u70b9\u3067\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b50\u3068\u75be\u60a3\u306e\u95a2\u9023\u6027\u304c\u307e\u3060\u4e0d\u660e\u306a\u5834\u5408\u3001\u60a3\u8005\u306f\u8a3a\u65ad\u306b\u81f3\u3089\u306a\u3044\u307e\u307e\u3068\u306a\u308b\u3002\u305d\u306e\u305f\u3081\u3001CENTOGENE\u306f\u9670\u6027\u75c7\u4f8b\u3092\u5b9a\u671f\u7684\u306b\u518d\u8a55\u4fa1\u3057\u3066\u304a\u308a\u3001\u305d\u306e\u7d50\u679c\u3001\u591a\u304f\u306e\u60a3\u8005\u306e\u8a3a\u65ad\u304c\u78ba\u5b9a\u3057\u3066\u3044\u308b\u3002\u6700\u8fd1\u5831\u544a\u3055\u308c\u305f\u795e\u7d4c\u7b4b\u75be\u60a3\u306b\u95a2\u3059\u308b\u75c7\u4f8b\u30b7\u30ea\u30fc\u30ba\u306f\u3001European Journal of Medical Genetics\u8a8c\u306b\u63b2\u8f09\u3055\u308c\u305f\u3002.<\/p>\n              <div class=\"bl-topics\"><a href=\"https:\/\/www.centogene.com\/jp\/topic\/wes\/\" class=\"cat-link\">\u30a6\u30a7\u30b9<\/a><a href=\"https:\/\/www.centogene.com\/jp\/topic\/wgs\/\" class=\"cat-link\">WGS<\/a><a href=\"https:\/\/www.centogene.com\/jp\/topic\/biodatabank\/\" class=\"cat-link\">\u30d0\u30a4\u30aa\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9<\/a><\/div>      \n            <\/div>\n            <div class=\"bl-datos col-md-4 col-12\">\n                              <div class=\"bl-autores\">\n                \u8457\u8005\uff1a\u30a2\u30cd\u30c3\u30c8\u30fb\u30de\u30ec                <\/div>\n                            <div class=\"bl-fecha\">\n                 <time class=\"updated\" datetime=\"2022-06-9\" pubdate>2022 \u5e74 6 \u6708 9 \u65e5<\/time>               <\/div>\n                              \n                <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/35690317\/\" rel=\"bookmark\" title=\"\u5e0c\u5c11\u75be\u60a3\u60a3\u8005\u306e\u9061\u53ca\u7684\u8a3a\u65ad\" class=\"btn btn-2\" target=\"_blank\">\u51fa\u7248\u7269\u3092\u8aad\u3080 <\/a>\n                          <\/div>\n          <\/div>\n        <\/article>\n              <article class=\"item-noticia\">\n          <div class=\"row bl-texto\">\n            <div class=\"col-md-8 col-12\">       \n                       \n              <h4 class=\"bl-titulo\">\u5e0c\u5c11\u75be\u60a3\u30d0\u30a4\u30aa\u30de\u30fc\u30ab\u30fc\u306e\u9069\u7528\u7bc4\u56f2\u306e\u62e1\u5927<\/h4>\n              <p><strong>\u30bf\u30f3\u30c7\u30e0\u8cea\u91cf\u5206\u6790\u6cd5\u3092\u7528\u3044\u305f\u30b4\u30fc\u30b7\u30a7\u75c51\u578b\u60a3\u8005\u306e\u5c3f\u4e2d\u30d0\u30a4\u30aa\u30de\u30fc\u30ab\u30fc\u30d7\u30ed\u30d5\u30a1\u30a4\u30eb\u306e\u5b9a\u91cf<\/strong><\/p>\n              <p>\u30d0\u30a4\u30aa\u30de\u30fc\u30ab\u30fc\u306f\u3001\u5927\u898f\u6a21\u306a\u60a3\u8005\u30b3\u30db\u30fc\u30c8\u3068\u5bfe\u7167\u7fa4\u306b\u304a\u3044\u3066\u5341\u5206\u306b\u7279\u6027\u304c\u89e3\u660e\u3055\u308c\u308c\u3070\u3001\u8a3a\u65ad\u3001\u4e88\u5f8c\u4e88\u6e2c\u3001\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u306a\u3069\u3001\u69d8\u3005\u306a\u7528\u9014\u306b\u5f79\u7acb\u3064\u53ef\u80fd\u6027\u3092\u79d8\u3081\u3066\u3044\u307e\u3059\u3002CENTOGENE\u306f\u3001\u5e0c\u5c11\u75be\u60a3\u30b5\u30f3\u30d7\u30eb\u306e\u8c4a\u5bcc\u306a\u84c4\u7a4d\u3092\u57fa\u76e4\u3068\u3057\u3066\u3001\u65e2\u77e5\u304a\u3088\u3073\u65b0\u898f\u30d0\u30a4\u30aa\u30de\u30fc\u30ab\u30fc\u306b\u95a2\u3059\u308b\u95a2\u9023\u7814\u7a76\u3092\u7a4d\u6975\u7684\u306b\u652f\u63f4\u3057\u3066\u3044\u307e\u3059\u3002\u30b4\u30fc\u30b7\u30a7\u75c5\u306b\u95a2\u3059\u308b\u95a2\u9023\u7814\u7a76\u306f\u3001\u6700\u8fd1Diagnostics\u8a8c\u306b\u63b2\u8f09\u3055\u308c\u307e\u3057\u305f\u3002.<\/p>\n              <div class=\"bl-topics\"><a href=\"https:\/\/www.centogene.com\/jp\/topic\/metabolic-disorders\/\" class=\"cat-link\">\u4ee3\u8b1d\u969c\u5bb3<\/a><a href=\"https:\/\/www.centogene.com\/jp\/topic\/biomarker\/\" class=\"cat-link\">\u30d0\u30a4\u30aa\u30de\u30fc\u30ab\u30fc<\/a><\/div>      \n            <\/div>\n            <div class=\"bl-datos col-md-4 col-12\">\n                              <div class=\"bl-autores\">\n                \u8457\u8005\uff1a\u30d5\u30a3\u30ea\u30d1\u30fb\u30ad\u30e5\u30e9\u30c9                <\/div>\n                            <div class=\"bl-fecha\">\n                 <time class=\"updated\" datetime=\"2022-06-8\" pubdate>2022 \u5e74 6 \u6708 8 \u65e5<\/time>               <\/div>\n                              \n                <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/35741225\/\" rel=\"bookmark\" title=\"\u5e0c\u5c11\u75be\u60a3\u30d0\u30a4\u30aa\u30de\u30fc\u30ab\u30fc\u306e\u9069\u7528\u7bc4\u56f2\u306e\u62e1\u5927\" class=\"btn btn-2\" target=\"_blank\">\u51fa\u7248\u7269\u3092\u8aad\u3080 <\/a>\n                          <\/div>\n          <\/div>\n        <\/article>\n              <article class=\"item-noticia\">\n          <div class=\"row bl-texto\">\n            <div class=\"col-md-8 col-12\">       \n                       \n              <h4 class=\"bl-titulo\">\u91cd\u7be4\u306a\u75be\u60a3\u306b\u5bfe\u3059\u308b\u9769\u65b0\u7684\u306a\u6cbb\u7642\u6cd5<\/h4>\n              <p><strong>\u795e\u7d4c\u969c\u5bb3\u578b\u30b4\u30fc\u30b7\u30a7\u75c52\u578b\u60a3\u8005\u306b\u304a\u3051\u308b\u9ad8\u7528\u91cf\u30a2\u30f3\u30d6\u30ed\u30ad\u30bd\u30fc\u30eb\u6cbb\u7642\u306e\u795e\u7d4c\u8a8d\u77e5\u304a\u3088\u3073\u904b\u52d5\u767a\u9054\u3078\u306e\u6709\u671b\u306a\u52b9\u679c<\/strong><\/p>\n              <p>\u4e73\u5e7c\u5150\u671f\u306b\u81f4\u547d\u7684\u306a\u8ee2\u5e30\u3092\u3082\u305f\u3089\u3059\u75be\u60a3\u306b\u304a\u3044\u3066\u306f\u3001\u63a2\u7d22\u7684\u304b\u3064\u9769\u65b0\u7684\u306a\u6cbb\u7642\u6cd5\u304c\u3057\u3070\u3057\u3070\u8ffd\u6c42\u3055\u308c\u3001\u6b63\u5f53\u5316\u3055\u308c\u307e\u3059\u3002CENTOGENE\u306f\u3001\u30b4\u30fc\u30b7\u30a7\u75c52\u578b\u306e\u65b0\u751f\u5150\u304c\u3001\u751f\u5f8c3\u5e74\u9593\u3001\u9069\u5fdc\u5916\u4f7f\u7528\u306e\u54b3\u6b62\u3081\u85ac\u3092\u51e6\u65b9\u3055\u308c\u305f\u7d50\u679c\u3001\u307b\u307c\u6b63\u5e38\u306b\u6210\u9577\u3057\u305f\u3068\u3044\u3046\u3001\u91cd\u8981\u306a\u6210\u529f\u4e8b\u4f8b\u306b\u8ca2\u732e\u3067\u304d\u305f\u3053\u3068\u3092\u8a87\u308a\u306b\u601d\u3044\u307e\u3059\u3002\u3053\u306e\u75c7\u4f8b\u306f\u3001Frontiers in Neurology\u8a8c\u306b\u63b2\u8f09\u3055\u308c\u307e\u3057\u305f\u3002.<\/p>\n              <div class=\"bl-topics\"><a href=\"https:\/\/www.centogene.com\/jp\/topic\/metabolic-disorders\/\" class=\"cat-link\">\u4ee3\u8b1d\u969c\u5bb3<\/a><a href=\"https:\/\/www.centogene.com\/jp\/topic\/neurology\/\" class=\"cat-link\">\u795e\u7d4c\u5b66<\/a><\/div>      \n            <\/div>\n            <div class=\"bl-datos col-md-4 col-12\">\n                              <div class=\"bl-autores\">\n                \u8457\u8005\uff1a\u30b0\u30a4\u30c9\u30fb\u30cf\u30fc\u30c8\u30de\u30f3                <\/div>\n                            <div class=\"bl-fecha\">\n                 <time class=\"updated\" datetime=\"2022-06-6\" pubdate>06 2022 \u5e74 6 \u6708<\/time>               <\/div>\n                              \n                <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/35734474\/\" rel=\"bookmark\" title=\"\u91cd\u7be4\u306a\u75be\u60a3\u306b\u5bfe\u3059\u308b\u9769\u65b0\u7684\u306a\u6cbb\u7642\u6cd5\" class=\"btn btn-2\" target=\"_blank\">\u51fa\u7248\u7269\u3092\u8aad\u3080 <\/a>\n                          <\/div>\n          <\/div>\n        <\/article>\n              <article class=\"item-noticia\">\n          <div class=\"row bl-texto\">\n            <div class=\"col-md-8 col-12\">       \n                       \n              <h4 class=\"bl-titulo\">\u65b0\u898f\u75be\u60a3\u306e\u8a73\u7d30\u306a\u7279\u6027\u89e3\u6790<\/h4>\n              <p><strong>BUD13\u306e\u9078\u629e\u7684\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\u306f\u3001\u8102\u80aa\u840e\u7e2e\u75c7\u304a\u3088\u3073\u65e9\u8001\u75c7\u306e\u7279\u5fb4\u3092\u4f34\u3046\u767a\u9054\u969c\u5bb3\u306e\u91cd\u75c7\u5ea6\u3092\u6c7a\u5b9a\u3059\u308b\u3002<\/strong><\/p>\n              <p>\u65b0\u305f\u306a\u907a\u4f1d\u5b50\u3068\u75be\u60a3\u306e\u95a2\u9023\u6027\u3092\u78ba\u7acb\u3059\u308b\u3053\u3068\u306f\u3001\u8a3a\u65ad\u306b\u5373\u5ea7\u306b\u5f79\u7acb\u3064\u4e00\u65b9\u3001\u6cbb\u7642\u3092\u691c\u8a0e\u3059\u308b\u306b\u306f\u3001\u907a\u4f1d\u5b50\u578b\u3084\u8868\u73fe\u578b\u306b\u3068\u3069\u307e\u3089\u306a\u3044\u6a5f\u80fd\u7684\u306a\u77e5\u898b\u304c\u5fc5\u8981\u3068\u306a\u308b\u3002CENTOGENE\u306e\u7814\u7a76\u8005\u305f\u3061\u306f\u3001\u3053\u306e\u8ab2\u984c\u306b\u53d6\u308a\u7d44\u3093\u3060\u6700\u8fd1\u306e\u7814\u7a76\u306b\u8ca2\u732e\u3057\u305f\u3002\u8907\u6570\u306e\u6982\u5ff5\u7684\u30a2\u30d7\u30ed\u30fc\u30c1\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u3001\u65b0\u305f\u306a\u75be\u60a3\u304c\u7279\u5b9a\u3055\u308c\u3001\u305d\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u304c\u89e3\u660e\u3055\u308c\u305f\u3060\u3051\u3067\u306a\u304f\u3001mRNA\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u3001\u7d30\u80de\u5185\u5f62\u614b\u306e\u30ec\u30d9\u30eb\u3067\u7279\u5fb4\u3065\u3051\u3089\u308c\u305f\u3002\u3053\u306e\u7814\u7a76\u6210\u679c\u306f\u3001Genetics in Medicine\u8a8c\u306b\u63b2\u8f09\u3055\u308c\u305f\u3002.<\/p>\n              <div class=\"bl-topics\"><a href=\"https:\/\/www.centogene.com\/jp\/topic\/wes\/\" class=\"cat-link\">\u30a6\u30a7\u30b9<\/a><a href=\"https:\/\/www.centogene.com\/jp\/topic\/wgs\/\" class=\"cat-link\">WGS<\/a><a href=\"https:\/\/www.centogene.com\/jp\/topic\/biodatabank\/\" class=\"cat-link\">\u30d0\u30a4\u30aa\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9<\/a><\/div>      \n            <\/div>\n            <div class=\"bl-datos col-md-4 col-12\">\n                              <div class=\"bl-autores\">\n                \u8457\u8005: Bertoli-Avella\u3001Aida M.\u3001MD                <\/div>\n                            <div class=\"bl-fecha\">\n                 <time class=\"updated\" datetime=\"2022-06-6\" pubdate>06 2022 \u5e74 6 \u6708<\/time>               <\/div>\n                              \n                <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/35670808\/\" rel=\"bookmark\" title=\"\u65b0\u898f\u75be\u60a3\u306e\u8a73\u7d30\u306a\u7279\u6027\u89e3\u6790\" class=\"btn btn-2\" target=\"_blank\">\u51fa\u7248\u7269\u3092\u8aad\u3080 <\/a>\n                          <\/div>\n          <\/div>\n        <\/article>\n              <article class=\"item-noticia\">\n          <div class=\"row bl-texto\">\n            <div class=\"col-md-8 col-12\">       \n                       \n              <h4 class=\"bl-titulo\">\u5e0c\u5c11\u75be\u60a3\u8a3a\u65ad\u306e\u305f\u3081\u306e\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3078\u306e\u8ca2\u732e<\/h4>\n              <p><strong>\u5e0c\u5c11\u75be\u60a3\u306e\u8a3a\u65ad\u306b\u304a\u3051\u308b\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u306b\u95a2\u3059\u308b\u63a8\u5968\u4e8b\u9805<\/strong><\/p>\n              <p>\u9069\u5207\u306a\u907a\u4f1d\u5b50\u8a3a\u65ad\u306f\u3001\u6700\u65b0\u306e\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u306b\u57fa\u3065\u3044\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u306f\u6700\u8fd1\u3001\u6b27\u5dde\u306e\u5c02\u9580\u5bb6\u30d1\u30cd\u30eb\u306b\u3088\u3063\u3066\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\uff08WGS\uff09\u5411\u3051\u306b\u6539\u8a02\u3055\u308c\u307e\u3057\u305f\u3002CENTOGENE\u306e\u6700\u9ad8\u30b2\u30ce\u30e0\u30fb\u533b\u7642\u8cac\u4efb\u8005\u3067\u3042\u308b\u30d4\u30fc\u30bf\u30fc\u30fb\u30d0\u30a6\u30a2\u30fc\u6559\u6388\u306f\u3001\u3053\u306e\u30d1\u30cd\u30eb\u306b\u62db\u5f85\u30e1\u30f3\u30d0\u30fc\u3068\u3057\u3066\u53c2\u52a0\u3057\u3001CENTOGENE\u304c\u907a\u4f1d\u5b50\u8a3a\u65ad\u5206\u91ce\u3067\u9ad8\u3044\u8a55\u4fa1\u3092\u5f97\u3066\u3044\u308b\u3053\u3068\u3092\u793a\u3057\u3066\u3044\u307e\u3059\u3002\u6539\u8a02\u3055\u308c\u305f\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u306f\u3001European Journal of Human Genetics\u8a8c\u306b\u63b2\u8f09\u3055\u308c\u307e\u3057\u305f\u3002.<\/p>\n              <div class=\"bl-topics\"><a href=\"https:\/\/www.centogene.com\/jp\/topic\/wgs\/\" class=\"cat-link\">WGS<\/a><\/div>      \n            <\/div>\n            <div class=\"bl-datos col-md-4 col-12\">\n                              <div class=\"bl-autores\">\n                \u8457\u8005\uff1a\u30d4\u30fc\u30bf\u30fc\u30fb\u30d0\u30a6\u30a2\u30fc\u6559\u6388\uff08\u533b\u5b66\u535a\u58eb\uff09                <\/div>\n                            <div class=\"bl-fecha\">\n                 <time class=\"updated\" datetime=\"2022-05-16\" pubdate>16 2022 \u5e74 5 \u6708<\/time>               <\/div>\n                              \n                <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/35577938\/\" rel=\"bookmark\" title=\"\u5e0c\u5c11\u75be\u60a3\u8a3a\u65ad\u306e\u305f\u3081\u306e\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3078\u306e\u8ca2\u732e\" class=\"btn btn-2\" target=\"_blank\">\u51fa\u7248\u7269\u3092\u8aad\u3080 <\/a>\n                          <\/div>\n          <\/div>\n        <\/article>\n              <article class=\"item-noticia\">\n          <div class=\"row bl-texto\">\n            <div class=\"col-md-8 col-12\">       \n                       \n              <h4 class=\"bl-titulo\">\u5927\u898f\u6a21\u60a3\u8005\u30b3\u30db\u30fc\u30c8\u306e\u8a18\u8ff0\u306b\u3088\u308b\u75be\u60a3\u7406\u89e3\u306e\u6df1\u5316<\/h4>\n              <p><strong>\u5358\u4e00\u65bd\u8a2d\u3067\u691c\u67fb\u3092\u53d7\u3051\u305f97\u4eba\u306eCLN6\u60a3\u8005\u30b3\u30db\u30fc\u30c8\u306e\u81e8\u5e8a\u7684\u304a\u3088\u3073\u907a\u4f1d\u5b66\u7684\u7279\u5fb4\u4ed8\u3051<\/strong><\/p>\n              <p>\u7279\u5b9a\u306e\u5e0c\u5c11\u75be\u60a3\u3092\u6df1\u304f\u7406\u89e3\u3059\u308b\u306b\u306f\u3001\u5229\u7528\u53ef\u80fd\u306a\u60a3\u8005\u30b3\u30db\u30fc\u30c8\u306e\u898f\u6a21\u304c\u5c0f\u3055\u3044\u3053\u3068\u304c\u5927\u304d\u306a\u969c\u5bb3\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3002CENTOGENE\u306f\u3001\u30d0\u30a4\u30aa\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3092\u6d3b\u7528\u3059\u308b\u3053\u3068\u3067\u3001\u5c0f\u5150\u671f\u767a\u75c7\u306e\u795e\u7d4c\u4ee3\u8b1d\u75be\u60a3\u3067\u3042\u308b\u30d0\u30c3\u30c6\u30f3\u75c5\u306b\u304a\u3051\u308b\u3053\u306e\u8ab2\u984c\u3092\u514b\u670d\u3057\u305f\u300297\u540d\u306e\u60a3\u8005\u3092\u5bfe\u8c61\u3068\u3057\u305f\u5305\u62ec\u7684\u304b\u3064\u5747\u4e00\u306a\u7279\u6027\u8a55\u4fa1\u306f\u3001\u3053\u306e\u7a2e\u306e\u30b3\u30db\u30fc\u30c8\u3068\u3057\u3066\u306f\u904e\u53bb\u6700\u5927\u898f\u6a21\u3067\u3042\u308a\u3001\u30d0\u30c3\u30c6\u30f3\u75c5\u306b\u95a2\u3059\u308b\u77e5\u898b\u3092\u5e83\u3052\u308b\u3068\u3068\u3082\u306b\u3001\u5e0c\u5c11\u907a\u4f1d\u6027\u75be\u60a3\u5206\u91ce\u306b\u304a\u3051\u308bCENTOGENE\u306e\u72ec\u81ea\u306e\u5730\u4f4d\u3092\u793a\u3059\u3082\u306e\u3068\u306a\u3063\u305f\u3002\u672c\u7814\u7a76\u6210\u679c\u306f\u3001Orphanet Journal of Rare Diseases\u8a8c\u306b\u63b2\u8f09\u3055\u308c\u305f\u3002.<\/p>\n              <div class=\"bl-topics\"><a href=\"https:\/\/www.centogene.com\/jp\/topic\/neurology\/\" class=\"cat-link\">\u795e\u7d4c\u5b66<\/a><a href=\"https:\/\/www.centogene.com\/jp\/topic\/wes\/\" class=\"cat-link\">\u30a6\u30a7\u30b9<\/a><a href=\"https:\/\/www.centogene.com\/jp\/topic\/wgs\/\" class=\"cat-link\">WGS<\/a><a href=\"https:\/\/www.centogene.com\/jp\/topic\/biodatabank\/\" class=\"cat-link\">\u30d0\u30a4\u30aa\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9<\/a><\/div>      \n            <\/div>\n            <div class=\"bl-datos col-md-4 col-12\">\n                              <div class=\"bl-autores\">\n                \u8457\u8005\uff1aRus, Corina-Marcela                <\/div>\n                            <div class=\"bl-fecha\">\n                 <time class=\"updated\" datetime=\"2022-05-3\" pubdate>2022 \u5e74 3 \u6708 5 \u65e5<\/time>               <\/div>\n                              \n  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href=\"https:\/\/www.centogene.com\/jp\/wp-json\/wp\/v2\/pages\/2491\/page\/2\/\">\u6b21 &quot;\u00bb<\/a>      <\/div>\n    <\/div>\n  <\/section>\n\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":0,"parent":1712,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-2491","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Scientific Publications | CENTOGENE<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" 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