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Journal of Genetics|September 7, 2023
A novel missense variant in EIF2B5 identified in a consanguineous Iranian family with vanishing white matter disease and a brief review of the literatureParisa Nourmohammadi, Mostafa Asadollahi, Arezou Karamzade, et al.
HGG Advances|March 14, 2026
Bi-allelic Variants in AP5Z1 and AP5B1 lead to retinal degenerationHafiz Muhammad Jafar Hussain, Meng Wang, Paul Yang, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 1, 2025
Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and IchthyosisKeit Men Wong, Reza Maroofian, Kolja Meier, et al.
The Journal of Clinical Investigation|May 27, 2020
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndromeBrooke L Latour, Julie C Van De Weghe, Tamara Ds Rusterholz, et al.
American Journal of Medical Genetics. Part A|July 16, 2026
Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic EncephalopathyDonald R Latner, Susan M Hiatt, Candice R Finnila, et al.
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