Showing results (171-180 of 189) with videos related to

Sort By:
Pageof 19
Journal of the European Academy of Dermatology and Venereology : JEADV|July 18, 2020
Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmentiC Bodemer, A Diociaiuti, S Hadj-Rabia, et al.
Neuromuscular Disorders : NMD|March 7, 2023
A new score combining compound muscle action potential (CMAP) amplitudes and motor score is predictive of motor outcome after AVXS-101 (Onasemnogene Abeparvovec) SMA therapyR Barrois, C Barnerias, E Deladrière, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|March 27, 2021
Electro-clinical features in epileptic children with chromosome 15q duplication syndromeM-T Dangles, V Malan, G Dumas, et al.
Neurology|December 17, 2008
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletionC Cardoso, A Boys, E Parrini, et al.
Molecular Genetics and Metabolism|June 12, 2013
Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic diseaseA Brassier, O Boyer, V Valayannopoulos, et al.
Journal of Medical Genetics|July 7, 2009
Novel FOXG1 mutations associated with the congenital variant of Rett syndromeM A Mencarelli, A Spanhol-Rosseto, R Artuso, et al.
Journal of Human Genetics|December 20, 2019
Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth diseaseJ Mortreux, J Bacquet, A Boyer, et al.
Neurology|September 19, 2008
Neurodegeneration associated with genetic defects in phospholipase A(2)A Gregory, S K Westaway, I E Holm, et al.
European Journal of Neurology|October 14, 2020
Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathiesR Guimarães-Costa, G Fernández-Eulate, K Wahbi, et al.
Mitochondrion|December 15, 2007
Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategyS Bannwarth, V Procaccio, C Rouzier, et al.
Pageof 19