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Plos One|April 29, 2016
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie SyndromeMorad Ansari, Jacqueline Rainger, Isabel M Hanson, et al.American Journal of Medical Genetics. Part A|October 1, 2015
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patientsSalima El Chehadeh, Laurence Faivre, Anne-Laure Mosca-Boidron, et al.European Journal of Cancer (Oxford, England : 1990)|December 12, 2022
Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the diseaseYue Jiao, Thérèse Truong, Séverine Eon-Marchais, et al.Kidney International|August 5, 2020
Amniotic fluid peptides predict postnatal kidney survival in developmental kidney diseaseJulie Klein, Bénédicte Buffin-Meyer, Franck Boizard, et al.Journal of Medical Genetics|March 30, 2019
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disordersCaroline Schluth-Bolard, Flavie Diguet, Nicolas Chatron, et al.BMC Cancer|January 14, 2016
GENESIS: a French national resource to study the missing heritability of breast cancerOlga M Sinilnikova, Marie-Gabrielle Dondon, Séverine Eon-Marchais, et al.Journal of Medical Genetics|April 6, 2018
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological featuresMarguerite Miguet, Laurence Faivre, Jeanne Amiel, et al.Journal of Medical Genetics|April 6, 2021
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenitaAnnie Laquerriere, Dana Jaber, Emanuela Abiusi, et al.European Journal of Human Genetics : EJHG|October 23, 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disordersThomas Husson, François Lecoquierre, Gaël Nicolas, et al.Human Molecular Genetics|August 7, 2009
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriersAntonis C Antoniou, Olga M Sinilnikova, Lesley McGuffog, et al.Pageof 6