B. Leheup

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech

Céline Bonnet, Joris Andrieux, Mylène Béri‐Dexheimer et al. · Journal of Medical Genetics · 2010 · 107 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Search for the best indicators for the presence of a <i>VPS13B</i> gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome

Salima El Chehadeh, Bernard Aral, Nadège Gigot et al. · Journal of Medical Genetics · 2010 · 40 citations

Life Sciences, Genetics, Molecular Genetics +13

Microtriplication of 11q24.1: a highly recognisable phenotype with short stature, distinctive facial features, keratoconus, overweight, and intellectual disability

Claire Bénéteau, Emilie Landais, Martine Doco‐Fenzy et al. · Journal of Medical Genetics · 2011 · 13 citations

Life Sciences, Genetics, Molecular Genetics +17