Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome

por Jedraszak, Guillaume, Receveur, Aline, Andrieux, Joris, Mathieu-Dramard, Michèle, Copin, Henri, Morin, Gilles
Publicado 2015

Azoospermia and trisomy 18p syndrome: a fortuitous association? A patient report and a review of the literature

por Jedraszak, Guillaume, Copin, Henri, Demailly, Manuel, Quibel, Catherine, Leclerc, Thierry, Gallet, Marlène, Benkhalifa, Moncef, Receveur, Aline
Publicado 2015

A case of germline mosaicism for a 7q32.1q33 deletion in a sperm donor: consequences on pregnancy follow-up and recommendations

por Chalas, Celine, Receveur, Aline, Frydman, Nelly, Massin, Nathalie, Tachdjian, Gerard, Drouineaud, Veronique, Benachi, Alexandra, Patrat, Catherine, Petit, Francois Michael
Publicado 2020

Copy number variations analysis in a cohort of 47 fetuses and newborns with congenital diaphragmatic hernia

por Boisson, Marie, Cordier, Anne‐Gael, Martinovic, Jelena, Receveur, Aline, Mouka, Aurélie, Diot, Romain, Egoroff, Catherine, Esnault, Geoffroy, Drévillon, Loïc, Benachi, Alexandra, Tachdjian, Gérard, Tosca, Lucie
Publicado 2022