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JPMA. the Journal of the Pakistan Medical Association|March 23, 2022
Perspective on newborn screening (NBS): Evidence sharing on conditions to be included in NBS in PakistanHafsa Majid, Lena Jafri, Sibtain Ahmed, et al.
Annals of Medicine and Surgery (2012)|April 28, 2023
L-2-hydroxyglutaric aciduria - review of literature and case seriesSibtain Ahmed, Ayra Siddiqui, Ralph J DeBerardinis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2021
A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsyMin Ni, Bushra Afroze, Chao Xing, et al.
Biorxiv : the Preprint Server for Biology|July 16, 2025
L-2-hydroxyglutarate impairs neuronal differentiation through epigenetic activation of <i>MYC</i> expressionWen Gu, Xun Wang, Ashley Solmonson, et al.
The Journal of Clinical Investigation|March 17, 2026
L-2-hydroxyglutarate impairs neuronal differentiation through epigenetic activation of MYC expressionWen Gu, Xun Wang, Ashley Solmonson, et al.
American Journal of Human Genetics|October 6, 2009
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilinKarlien L M Coene, Ronald Roepman, Dan Doherty, et al.
Biorxiv : the Preprint Server for Biology|January 3, 2024
An interactive web application for exploring human plasma and fibroblast metabolomics data from patients with inborn errors of metabolismLing Cai, Hieu S Vu, Wen Gu, et al.
American Journal of Medical Genetics. Part A|September 11, 2010
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic featuresSheila Unger, Ekkehart Lausch, Antonio Rossi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
PIGG variant pathogenicity assessment reveals characteristic features within 19 familiesCamille Tremblay-Laganière, Reza Maroofian, Thi Tuyet Mai Nguyen, et al.
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