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American Journal of Human Genetics|July 26, 2016
Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary MicrocephalyHongda Li, Stephanie L Bielas, Maha S Zaki, et al.Epilepsia|January 7, 2021
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathyStephanie Efthymiou, Marina Dutra-Clarke, Reza Maroofian, et al.Human Mutation|December 6, 2008
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvementFrancesco Brancati, Miriam Iannicelli, Lorena Travaglini, et al.European Journal of Human Genetics : EJHG|April 30, 2015
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1ALucas M Bronicki, Claire Redin, Severine Drunat, et al.Clinical Genetics|January 15, 2024
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian childrenNour Elkhateeb, Mahmoud Y Issa, Hasnaa M Elbendary, et al.Nature|April 1, 2026
Developmental organization of sensory and sympathetic gangliaKeng Ioi Vong, Yanina D Alvarez, Qingquan Zhang, et al.American Journal of Human Genetics|November 5, 2016
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone LissencephalyJulie Jerber, Maha S Zaki, Jumana Y Al-Aama, et al.Proceedings of the National Academy of Sciences of the United States of America|January 20, 2023
TMEM161B modulates radial glial scaffolding in neocortical developmentLu Wang, Caleb Heffner, Keng Ioi Vong, et al.American Journal of Human Genetics|December 19, 2020
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidismChunmei Li, Eliane Beauregard-Lacroix, Christine Kondratev, et al.Nucleic Acids Research|June 2, 2026
Addressing the needs of nano-rare patients: the n-Lorem experienceStanley T Crooke, Sarah Glass, Joseph G Gleeson, et al.Pageof 31