Showing results (161-170 of 189) with videos related to

Sort By:
Pageof 19
Muscle & Nerve|September 17, 2004
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutationsA Muchir, J Medioni, M Laluc, et al.
Human Molecular Genetics|June 9, 1998
doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH)V des Portes, F Francis, J M Pinard, et al.
Neuromuscular Disorders : NMD|December 11, 2012
Innovative methods to assess upper limb strength and function in non-ambulant Duchenne patientsL Servais, N Deconinck, A Moraux, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|January 17, 2012
[Medium-chain acyl-CoA-dehydrogenase (MCAD) deficiency: French consensus for neonatal screening, diagnosis, and management]F Feillet, H Ogier, D Cheillan, et al.
Journal of Neuroradiology = Journal De Neuroradiologie|April 10, 2010
Posterior fossa imaging in 158 children with ataxiaN Boddaert, I Desguerre, N Bahi-Buisson, et al.
AJNR. American Journal of Neuroradiology|December 24, 2021
Feasibility and Added Value of Fetal DTI Tractography in the Evaluation of an Isolated Short Corpus Callosum: Preliminary ResultsA-E Millischer, D Grevent, P Sonigo, et al.
Journal of Medical Genetics|March 1, 1997
Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22V des Portes, J M Pinard, D Smadja, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|June 20, 2018
Transition from pediatric to adult care in adolescents with hereditary metabolic diseases: Specific guidelines from the French network for rare inherited metabolic diseases (G2M)B Chabrol, P Jacquin, L Francois, et al.
Journal of Medical Genetics|August 10, 2010
The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 proteinC Rouzier, S Le Guédard-Méreuze, K Fragaki, et al.
Clinical Genetics|May 20, 2014
Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family historyK Nguyen, A Putoux, T Busa, et al.
Pageof 19