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Journal of Medical Genetics|May 24, 2014
Mutations in SETD2 cause a novel overgrowth conditionArmelle Luscan, Ingrid Laurendeau, Valérie Malan, et al.Genes|February 24, 2024
Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case ReportZangbéwendé Guy Ouedraogo, Caroline Janel, Alexandre Janin, et al.Birth Defects Research. Part A, Clinical and Molecular Teratology|December 23, 2015
Impact of prenatal diagnosis on the outcome of patients with a transposition of great arteries: A 24-year population-based studyAnne Debost-Legrand, Lemlih Ouchchane, Christine Francannet, et al.American Journal of Medical Genetics. Part A|November 27, 2014
Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndromeCarole Goumy, Fanny Laffargue, Eléonore Eymard-Pierre, et al.NPJ Genomic Medicine|July 26, 2019
Deleterious mutations in ALDH1L2 suggest a novel cause for neuro-ichthyotic syndromeCatherine Sarret, Zahra Ashkavand, Evan Paules, et al.European Journal of Human Genetics : EJHG|July 18, 2013
An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3Céline Pebrel-Richard, Anne Debost-Legrand, Eléonore Eymard-Pierre, et al.American Journal of Medical Genetics. Part A|August 14, 2008
Genetic susceptibilities in the association between maternal exposure to tobacco smoke and the risk of nonsyndromic oral cleftCécile Chevrier, Michel Bahuau, Claire Perret, et al.Journal of the Neurological Sciences|August 30, 2011
Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohortCatherine Sarret, Mélanie Rigal, Catherine Vaurs-Barrière, et al.European Journal of Obstetrics, Gynecology, and Reproductive Biology|August 16, 2005
Antenatal detection and impact on outcome of congenital diaphragmatic hernia: a 12-year experience in Auvergne, FranceDenis Gallot, Karen Coste, Christine Francannet, et al.European Journal of Medical Genetics|July 19, 2015
Rare ACTG1 variants in fetal microlissencephalyKarine Poirier, Jelena Martinovic, Annie Laquerrière, et al.Pageof 9