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JIMD Reports|February 25, 2026
Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA DeficiencySophie Manoy, Tahlee Minto, Kalliope Demetriou, et al.Human Molecular Genetics|July 16, 2020
A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networksDeepti Domingo, Urwah Nawaz, Mark Corbett, et al.American Journal of Medical Genetics. Part A|June 15, 2007
A novel splice site mutation in EYA4 causes DFNA10 hearing lossMichael S Hildebrand, David Coman, Tao Yang, et al.JIMD Reports|February 20, 2020
Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patientsHossein Moravej, Ruqaiah Altassan, Jaak Jaeken, et al.Genes|April 30, 2021
Application of Genome Sequencing from Blood to Diagnose Mitochondrial DiseasesRocio Rius, Alison G Compton, Naomi L Baker, et al.Journal of the Endocrine Society|December 8, 2018
Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic LocusGiampaolo Trivellin, Erin Sharwood, Hadia Hijazi, et al.Iscience|January 13, 2021
Impaired endoplasmic reticulum-mitochondrial signaling in ataxia-telangiectasiaAbrey J Yeo, Kok L Chong, Magtouf Gatei, et al.Molecular and Cellular Biology|June 3, 2024
Reduced Protein Import via TIM23 SORT Drives Disease Pathology in TIMM50-Associated Mitochondrial DiseaseJordan J Crameri, Catherine S Palmer, Tegan Stait, et al.American Journal of Medical Genetics. Part A|May 25, 2021
Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variantRebecca L Poole, Philippa D K Curry, Ruta Marcinkute, et al.International Journal of Neonatal Screening|April 24, 2026
<i>COASY</i>-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-IZinandré Stander, Amy L White, Matthew Lynch, et al.Pageof 7