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Investigative Ophthalmology & Visual Science|March 26, 2011
Four-year follow-up of diagnostic service in USH1 patientsAnne-Françoise Roux, Valérie Faugère, Christel Vaché, et al.Archives of Neurology|December 17, 2009
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutationsJudith Calvo, Benoît Funalot, Robert A Ouvrier, et al.Journal of Medical Genetics|July 14, 2009
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformationsN Le Meur, M Holder-Espinasse, S Jaillard, et al.European Journal of Human Genetics : EJHG|January 10, 2013
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric ageSandra Mercier, Annick Toutain, Aurélie Toussaint, et al.Journal of the Neurological Sciences|October 22, 2019
Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variantsJ Lerat, C Magdelaine, A Lunati, et al.MMWR. Morbidity and Mortality Weekly Report|February 17, 2017
Transmission of Zika Virus - Haiti, October 12, 2015-September 10, 2016Ito Journel, Lesly L Andrécy, Dudley Metellus, et al.Journal of Neuromuscular Diseases|December 3, 2016
Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 PatientsSarah Grotto, Jean-Marie Cuisset, Stéphane Marret, et al.Radiotherapy and Oncology : Journal of the European Society for Therapeutic Radiology and Oncology|January 29, 2008
Randomized clinical trial of post-operative radiotherapy versus concomitant carboplatin and radiotherapy for head and neck cancers with lymph node involvementSéverine Racadot, Mariette Mercier, Sophie Dussart, et al.Environmental Toxicology and Chemistry|October 26, 2018
An International Perspective on the Tools and Concepts for Effluent Toxicity Assessments in the Context of Animal Alternatives: Reduction in Vertebrate UseTeresa J Norberg-King, Michelle R Embry, Scott E Belanger, et al.Journal of Medical Genetics|January 3, 2001
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 casesP de Lonlay, N Seta, S Barrot, et al.Pageof 29