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American Journal of Medical Genetics. Part A|June 19, 2025
The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)Sarah Donoghue, Smitha Kumble, Pontus Wasling, et al.Genes|January 21, 2023
Gathering the Stakeholder's Perspective: Experiences and Opportunities in Rare Genetic Disease ResearchLauren K White, T Blaine Crowley, Brenda Finucane, et al.JIMD Reports|April 18, 2022
Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studiesLauren S Akesson, Rocio Rius, Natasha J Brown, et al.Frontiers in Genetics|July 11, 2026
A role for <i>EHMT2</i> in a novel autosomal recessive neurodevelopmental syndrome? A case reportDmitrijs Rots, Beatriz Cristina de Oliveira, Laura Machado Lara Carvalho, et al.Journal of Inherited Metabolic Disease|July 19, 2020
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and managementRuqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, et al.Journal of Medical Genetics|March 2, 2022
Consolidation of the clinical and genetic definition of a <i>SOX4-</i>related neurodevelopmental syndromeMarco Angelozzi, Anirudha Karvande, Arnaud N Molin, et al.American Journal of Medical Genetics. Part A|March 30, 2021
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndromeSarah E Sheppard, Ian M Campbell, Margaret H Harr, et al.American Journal of Human Genetics|July 16, 2024
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromesDmitrijs Rots, Sanaa Choufani, Victor Faundes, et al.Pageof 2