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AJNR. American Journal of Neuroradiology|May 15, 2026
Observer agreement for a novel visual rating scale of vermian atrophy in childhood ataxia telangiectasiaRobert A Dineen, Stefan Pszczolkowski, Jenny Wright, et al.Molecular Genetics and Metabolism|June 28, 2024
Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, AustraliaKalliope Demetriou, Janelle Nisbet, David Coman, et al.European Journal of Human Genetics : EJHG|January 13, 2026
Childhood motor speech disorders: who to prioritise for genetic testingHalianna Van Niel, Mariana Lauretta, Emma Baker, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 22, 2020
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial diseaseLisa G Riley, Mark J Cowley, Velimir Gayevskiy, et al.American Journal of Human Genetics|June 19, 2018
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol BiosynthesisDavid Coman, Lisenka E L M Vissers, Lisa G Riley, et al.Internal Medicine Journal|September 10, 2021
Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendationsCarolyn M Sue, Shanti Balasubramaniam, Drago Bratkovic, et al.Molecular Genetics and Metabolism|May 31, 2024
Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific populationIsaac Bernhardt, Leah E Frajman, Bryony Ryder, et al.Journal of Inherited Metabolic Disease|March 29, 2026
Heritability of Long-Term Complications in Classic GalactosemiaOlivia S Garrett, Nicole H Smith, David J Cutler, et al.Journal of Inherited Metabolic Disease|February 26, 2021
New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approachesBryony Ryder, Michal Inbar-Feigenberg, Emma Glamuzina, et al.Journal of Inherited Metabolic Disease|December 15, 2017
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variantsAna Pop, Monique Williams, Eduard A Struys, et al.Pageof 7