Oriented Scanning Is the Leading Mechanism Underlying 5′ Splice Site Selection in Mammals

Por Borensztajn, Keren, Sobrier, Marie-Laure, Duquesnoy, Philippe, Fischer, Anne-Marie, Tapon-Bretaudière, Jacqueline, Amselem, Serge
Publicado em 2006

Unusual Phenotypic Features in a Patient with a Novel Splice Mutation in the GHRHR Gene

Por Hilal, Latifa, Hajaji, Yassir, Vie-Luton, Marie-Pierre, Ajaltouni, Zeina, Benazzouz, Bouchra, Chana, Maha, Chraïbi, Adelmajid, Kadiri, Abdelkrim, Amselem, Serge, Sobrier, Marie-Laure
Publicado em 2008

Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4

Por Machinis, Kalotina, Pantel, Jacques, Netchine, Irène, Léger, Juliane, Camand, Olivier J. A., Sobrier, Marie-Laure, Moal, Florence Dastot-Le, Duquesnoy, Philippe, Abitbol, Marc, Czernichow, Paul, Amselem, Serge
Publicado em 2001

Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD

Por Sobrier, Marie-Laure, Tsai, Yu-Cheng, Pérez, Christelle, Leheup, Bruno, Bouceba, Tahar, Duquesnoy, Philippe, Copin, Bruno, Sizova, Daria, Penzo, Alfredo, Stanger, Ben Z., Cooke, Nancy E., Liebhaber, Stephen A., Amselem, Serge
Publicado no Hum Mol Genet (2016)