A Founder Variant in ZNF335 Causes a Novel Phenotype: Autosomal Recessive Distal Motor Neuropathy
Done by:Nouf B. AlMutairi ,Sarah A. AlRuwayas Supervised by:Dr. Maha M. AlRasheed Associate Professor of Pharmacogenetics, KSUDr. Namik Kaya Senior Scientist and Head, Neurogenetics Unit at King Faisal Specialist Hospital View PDF : Download PDF : Download PDF
A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts.
Presented by : Maha Mansour AlNakiyah Reema Abdulrahman AlGhofaili Supervised by : Dr. Maha M. AlRasheed Associate professor of pharmacogenetics, Clinical Pharmacy Department, College of Pharmacy, KSU. Dr. Namik Kaya Senior Scientist and Head, Neurogenetics Unit at King Faisal Specialist Hospital. View PDF : Download PDF : Download PDF