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Journal of Child Neurology|July 14, 2012
Diaphragmatic weakness with progressive sensory and motor polyneuropathy: case report of a neonatal IGHMBP2-related neuropathyCyril Gitiaux, Jean Bergounioux, Maryse Magen, et al.Expert Review of Molecular Diagnostics|September 9, 2020
Improving post-natal detection of mitochondrial DNA mutationsGiulia Barcia, Zahra Assouline, Maryse Magen, et al.European Journal of Human Genetics : EJHG|November 12, 2009
Single-sperm analysis for recurrence risk assessment of spinal muscular atrophyPhilippe Burlet, Nadine Gigarel, Maryse Magen, et al.European Journal of Medical Genetics|March 14, 2018
Pitfalls in molecular diagnosis of Friedreich ataxiaGiulia Barcia, Myriam Rachid, Maryse Magen, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 11, 2020
A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disordersJulie Steffann, Sophie Monnot, Maryse Magen, et al.European Journal of Human Genetics : EJHG|November 4, 2024
Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxiaBrian Sperelakis-Beedham, Cyril Gitiaux, Marine Rajaoba, et al.Journal of Inherited Metabolic Disease|May 20, 2021
OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohortStephanie Gobin-Limballe, Chris Ottolenghi, Fabien Reyal, et al.Neuromuscular Disorders : NMD|January 2, 2019
Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective studyAgnès Viguier, Valérie Lauwers-Cances, Pascal Cintas, et al.Pageof 1