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Familial Cancer|November 15, 2011
Uptake of a randomized breast cancer prevention trial comparing letrozole to placebo in BRCA1/2 mutations carriers: the LIBER trialPascal Pujol, Christine Lasset, Pascaline Berthet, et al.
Human Mutation|July 2, 2016
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling PathwayChristèle Dubourg, Wilfrid Carré, Houda Hamdi-Rozé, et al.
Prenatal Diagnosis|October 18, 2008
Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counselingBrigitte Simon-Bouy, Agnès Taillandier, Delphine Fauvert, et al.
Neuro-Oncology|September 11, 2019
Medulloblastomas associated with an APC germline pathogenic variant share the good prognosis of CTNNB1-mutated medulloblastomasAurore Surun, Pascale Varlet, Laurence Brugières, et al.
Clinical Genetics|July 5, 2020
Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate geneClarisse Billon, Arnaud Molin, Céline Poirsier, et al.
European Journal of Neurology|March 21, 2023
SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosagesNicolas Pons, Gorka Fernández-Eulate, Antoine Pegat, et al.
Orphanet Journal of Rare Diseases|December 14, 2012
Screening for primary creatine deficiencies in French patients with unexplained neurological symptomsDavid Cheillan, Marie Joncquel-Chevalier Curt, Gilbert Briand, et al.
Molecular Genetics and Metabolism|October 5, 2013
Creatine and guanidinoacetate reference values in a French populationMarie Joncquel-Chevalier Curt, David Cheillan, Gilbert Briand, et al.
European Journal of Human Genetics : EJHG|October 29, 2015
A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGHCéline Poirsier, Justine Besseau-Ayasse, Caroline Schluth-Bolard, et al.
American Journal of Human Genetics|April 26, 2016
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative EffectMeriel McEntagart, Kathleen A Williamson, Jacqueline K Rainger, et al.
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