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Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2024
GM1 gangliosidosis type II: Results of a 10-year prospective studyPrecilla D'Souza, Cristan Farmer, Jean M Johnston, et al.Science Advances|February 1, 2021
Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variationDavid B Beck, Mohammed A Basar, Anthony J Asmar, et al.Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Domain specific phenotypic expansion associated with variants in MACF1Nikhita Gogate, Angad Jolly, Jill A Rosenfeld, et al.The New England Journal of Medicine|February 10, 2026
AAV9 Gene Therapy in Type II GM1 Gangliosidosis - A Phase 1-2 TrialConnor J Lewis, Precilla D'Souza, Jean M Johnston, et al.Medrxiv : the Preprint Server for Health Sciences|August 6, 2025
AAV9 Gene Therapy in GM1 Gangliosidosis Type II: A Phase 1/2 TrialConnor J Lewis, Precilla D'Souza, Jean M Johnston, et al.Journal of Clinical Immunology|September 23, 2024
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and HypogammaglobulinemiaFrancesco Saettini, Fabiola Guerra, Mario Mauri, et al.Medrxiv : the Preprint Server for Health Sciences|April 22, 2024
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disordersYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.Nature|July 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndromeYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.Pageof 4