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HGG Advances|August 29, 2022
Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variabilityRuizhi Duan, Hadia Hijazi, Elif Yilmaz Gulec, et al.Journal of Inherited Metabolic Disease|September 15, 2023
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular traffickingRuizhi Duan, Dana Marafi, Zhi-Jie Xia, et al.HGG Advances|May 1, 2023
Rare variant enrichment analysis supports <i>GREB1L</i> as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndromeAngad Jolly, Haowei Du, Christelle Borel, et al.American Journal of Human Genetics|August 10, 2022
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanodeDana Marafi, Nina Kozar, Ruizhi Duan, et al.American Journal of Human Genetics|September 28, 2021
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish populationTadahiro Mitani, Sedat Isikay, Alper Gezdirici, et al.Human Molecular Genetics|August 2, 2023
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic featuresZhigang Liu, Baozhong Xin, Iris N Smith, et al.Annals of Neurology|October 7, 2025
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset ParkinsonismHormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, et al.Pageof 3