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Journal of Inherited Metabolic Disease|July 9, 2017
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patientsEwa Pronicka, Mariola Ropacka-Lesiak, Joanna Trubicka, et al.The Biochemical Journal|August 7, 2016
Two transgenic mouse models for β-subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterationsGergely Kacso, Dora Ravasz, Judit Doczi, et al.Human Molecular Genetics|September 11, 2021
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial diseaseWen-Qiang Zheng, Signe Vandal Pedersen, Kyle Thompson, et al.Journal of Neurology|June 1, 2024
Status epilepticus in POLG disease: a large multinational studyOmar Hikmat, Karin Naess, Martin Engvall, et al.Journal of Inherited Metabolic Disease|November 15, 2025
Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 PatientsErle Kristensen, Karin Naess, Martin Engvall, et al.Journal of Inherited Metabolic Disease|October 18, 2015
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patientsRosalba Carrozzo, Daniela Verrigni, Magnhild Rasmussen, et al.Orphanet Journal of Rare Diseases|July 21, 2018
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?Birgit M Repp, Elisa Mastantuono, Charlotte L Alston, et al.Human Mutation|December 3, 2021
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorderSmitha Kumble, Amanda M Levy, Jaya Punetha, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 8, 2026
Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND)Sally Nijim, Mimi Kim, Melissa Denish, et al.Pageof 4