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European Journal of Medical Genetics|July 14, 2010
Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathyGilles Millat, Patrice Bouvagnet, Philippe Chevalier, et al.
Diseases of the Colon and Rectum|January 15, 2019
Endoscopic Phenotype of Monoallelic Carriers of MUTYH Gene Mutations in the Family of Polyposis Patients: A Prospective StudyNoha El Hachem, Caroline Abadie, Michel Longy, et al.
European Journal of Medical Genetics|December 16, 2014
Molecular characterization of a cohort of 73 patients with infantile spasms syndromeNadia Boutry-Kryza, Audrey Labalme, Dorothee Ville, et al.
Plos Biology|July 9, 2010
A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegiaMikołaj Słabicki, Mirko Theis, Dragomir B Krastev, et al.
European Journal of Human Genetics : EJHG|March 17, 2005
Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndromeDamien Sanlaville, David Genevieve, Céline Bernardin, et al.
European Journal of Cancer (Oxford, England : 1990)|November 15, 2025
Letrozole to prevent breast cancer in postmenopausal women with BRCA1/2 mutations (LIBER study)Pascal Pujol, Lise Roca, Alain Lortholary, et al.
American Journal of Medical Genetics. Part A|September 20, 2015
Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformationsJean-Benoît Courcet, Anne Minello, Fabienne Prieur, et al.
Prenatal Diagnosis|March 22, 2019
Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in FranceMarguerite Hureaux, Sarah Guterman, Bérénice Hervé, et al.
Neurobiology of Disease|May 27, 2015
A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channelsAffef Abidi, Jérôme J Devaux, Florence Molinari, et al.
Plos One|February 27, 2016
A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled PatientsAurore Curie, Amandine Brun, Anne Cheylus, et al.
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