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Scientific Publications

Science combined with clinical diagnostics enhances common knowledge to the benefit of the medical community. Explore our findings and stay informed about the latest discoveries.

Generation of iPSCs for Rare Diseases

Induced pluripotent stem cells (iPSCs) represent excellent in vitro models to study rare diseases and perform high-throughput drug screening. CENTOGENE has established iPSC technology for rare […]

Article
Jan 26, 2020
  • Metabolic Disorders
  • Ophthalmology
  • Neurology
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VEGF-A Gene Polymorphisms and Responses to Intravitreal Ranibizumab Treatment in Patients with Diabetic Macular Edema

The purpose of this study was to investigate the association between VEGF gene polymorphisms and the responses to treatment with intravitreal ranibizumab (IVR) in patients with diabetic macular edema […]

Article
Oct 13, 2017
  • Ophthalmology
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Cutaneous Freckling: Possible new Clinical Marker

Hermansky-Pudlak syndrome (HPS; MIM #203300) is a rare autosomal recessive disorder characterized by oculocutaneous albinism (OCA) and a bleeding diathesis. Other clinical features may include […]

Article
May 12, 2016
  • Ophthalmology
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Pierson Syndrome: A Case Report with a Neonatal Cardiac Association Based on a Novel Mutation in the LAMB2 Gene

Congenital nephrotic syndrome (CNS) combined with eye abnormalities including microcoria (small pupils that don’t respond to light) and abnormal lens shape can suggest a clinical diagnosis of Pierson […]

Article
Jan 03, 2015
  • Cardiovascular
  • Nephrology
  • Ophthalmology
  • Endocrinology
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