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European Journal of Human Genetics : EJHG|December 4, 2002
Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factorElise Chapiro, Delphine Feldmann, Françoise Denoyelle, et al.
European Journal of Medical Genetics|January 4, 2011
A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocationCapucine Hyon, Sandrine Marlin, Sandra Chantot-Bastaraud, et al.
Clinical Genetics|June 28, 2024
HDR syndrome: Large cohort and systematic reviewNicolas Rive Le Gouard, Valentin Lafond-Rive, Laurence Jonard, et al.
American Journal of Medical Genetics. Part A|February 5, 2008
Perrault syndrome: report of four new cases, review and exclusion of candidate genesSandrine Marlin, Didier Lacombe, Laurence Jonard, et al.
Biomedicines|August 28, 2025
Vestibular Deficit in Patients with Waardenburg SyndromeMathilde Benifla, Margaux Serey-Gaut, Emilie Bois, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|November 16, 2013
Discovery of a large deletion of KAL1 in 2 deaf brothersSandrine Marlin, Sandra Chantot-Bastaraud, Albert David, et al.
American Journal of Medical Genetics. Part A|July 12, 2005
22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromesMarie-France Portnoï, Fanny Lebas, Nicolas Gruchy, et al.
Human Mutation|December 16, 2014
Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndromeSéverine Bacrot, Mathilde Doyard, Céline Huber, et al.
Human Mutation|February 26, 2017
EDNRB mutations cause Waardenburg syndrome type II in the heterozygous stateSarah Issa, Nadege Bondurand, Emmanuelle Faubert, et al.
American Journal of Medical Genetics. Part A|January 30, 2023
An automatic facial landmarking for children with rare diseasesQuentin Hennocq, Thomas Bongibault, Matthieu Bizière, et al.
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