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Cells|April 28, 2016
A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated CardiomyopathyDamien Galant, Bénédicte Gaborit, Camille Desgrouas, et al.American Journal of Medical Genetics. Part A|May 13, 2014
Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genesCécile Mignon-Ravix, Pierre Cacciagli, Nancy Choucair, et al.American Journal of Medical Genetics. Part A|May 12, 2015
Variable clinical expression in patients with mosaicism for KCNQ2 mutationsMathieu Milh, Caroline Lacoste, Pierre Cacciagli, et al.Iscience|September 13, 2023
Enhanced cell viscosity: A new phenotype associated with lamin A/C alterationsCécile Jebane, Alice-Anaïs Varlet, Marc Karnat, et al.British Journal of Haematology|July 25, 2015
Platelet and not erythrocyte microparticles are procoagulant in transfused thalassaemia major patientsImane Agouti, Sylvie Cointe, Stéphane Robert, et al.Journal of Molecular Medicine (Berlin, Germany)|October 21, 2009
Polymorphisms of the lamina maturation pathway and their association with the metabolic syndrome: the DESIR prospective studyBenedicte Fontaine-Bisson, Marie-Christine Alessi, Noemie Saut, et al.Human Mutation|December 2, 2010
Novel mutations in TTC37 associated with tricho-hepato-enteric syndromeAlexandre Fabre, Christine Martinez-Vinson, Bertrand Roquelaure, et al.Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation|August 16, 2012
French multicenter 22-year experience in stem cell transplantation for beta-thalassemia major: lessons and future directionsClaire Galambrun, Corinne Pondarré, Yves Bertrand, et al.Frontiers in Immunology|June 6, 2018
Combined Immunodeficiency in Patients With Trichohepatoenteric SyndromeFrédéric Vély, Vincent Barlogis, Evelyne Marinier, et al.American Journal of Human Genetics|March 27, 2012
SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndromeAlexandre Fabre, Bernard Charroux, Christine Martinez-Vinson, et al.Pageof 9