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Latest scientific articles
The hereditary (partial) epilepsy panel is a comprehensive gene panel of the key genes linked to heritable partial (focal) epilepsy. Partial epilepsy (also referred to as focal epilepsy) specifically refers to epilepsy…
Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), Ehlers-Danlos syndrome (EDS) and related disorders are all heritable connective-tissue disorders (HCTD). Many genes have been identified as a cause of a HCTD, most…
Bone Marrow Failure is a clinically and genetically heterogeneous collection of diseases affecting hematopoiesis, resulting in reduced or abnormal production of one or more of the three blood cell types (red blood cell,…