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European Journal of Medical Genetics|December 3, 2014
Two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disabilityBertrand Isidor, Albert DavidAmerican Journal of Medical Genetics. Part A|May 16, 2006
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessiveAlain Verloes, Dominique Bremond-Gignac, Bertrand Isidor, et al.European Journal of Obstetrics, Gynecology, and Reproductive Biology|December 12, 2017
Familial deep endometriosis: A rare monogenic disease?Bertrand Isidor, Xenia Latypova, Stéphane PloteauSeminars in Fetal & Neonatal Medicine|September 25, 2021
Genetics of craniofacial malformationsAriane Schmetz, Jeanne Amiel, Dagmar WieczorekEuropean Journal of Medical Genetics|September 13, 2022
Challenges of preconception genetic testing in France: A qualitative studyEugénie Hoarau, Xenia Latypova, Maud Jourdain, et al.Neurogenetics|September 25, 2012
Refining the phenotype associated with MEF2C point mutationsThierry Bienvenu, Bertrand Diebold, Jamel Chelly, et al.Current Gene Therapy|August 4, 2012
MicroRNAs in genetic disease: rethinking the dosageAlexandra Henrion-Caude, Muriel Girard, Jeanne AmielNephrologie & Therapeutique|February 1, 2022
[Genetic screening is essential in polycystic kidney disease: It is never too late!]Clémence Petit, Diego Cantarovich, Virginie Langs, et al.American Journal of Medical Genetics. Part A|April 10, 2014
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutationsBertrand Isidor, Tiphaine Lefebvre, Claudine Le Vaillant, et al.Neuromuscular Disorders : NMD|April 17, 2007
Cognitive profile in childhood myotonic dystrophy type 1: is there a global impairment?Nathalie Angeard, Marcela Gargiulo, Aurélia Jacquette, et al.Pageof 64