Showing results (61-70 of 122) with videos related to
Sort By:
Pageof 13
American Journal of Medical Genetics|April 5, 2000
Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndromeC Patrono, C Rizzo, A Tessa, et al.Human Mutation|April 11, 2001
Identification of novel WFS1 mutations in Italian children with Wolfram syndromeA Tessa, I Carbone, M C Matteoli, et al.Neuromuscular Disorders : NMD|May 17, 2006
POMT2 mutation in a patient with 'MEB-like' phenotypeE Mercuri, A D'Amico, A Tessa, et al.Journal of Inherited Metabolic Disease|May 19, 1998
Primary adrenal insufficiency in a child with a mitochondrial DNA deletionC Bruno, C Minetti, Y Tang, et al.Molecular and Cellular Probes|September 25, 2002
Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndromeC Patrono, C Dionisi-Vici, A Giannotti, et al.Neuropediatrics|June 24, 2010
Cognitive profile in spastic paraplegia with thin corpus callosum and mutations in SPG11L Siri, F M Battaglia, A Tessa, et al.Neuromuscular Disorders : NMD|December 4, 2001
Hypertrophic cardiomyopathy and mtDNA depletion. Successful treatment with heart transplantationF M Santorelli, M G Gagliardi, C Dionisi-Vici, et al.Journal of the Neurological Sciences|February 13, 2007
Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loopF Cricchi, C Di Lorenzo, G S Grieco, et al.Neurogenetics|July 4, 2019
Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findingsMarcello Scala, Giorgia Brigati, Chiara Fiorillo, et al.Neurology|February 5, 1999
A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibersJ Arenas, Y Campos, B Bornstein, et al.Pageof 13