Dominique Boggio

Clinical and neurocognitive characterization of a family with a novel <i>MED12</i> gene frameshift mutation

Gaëtan Lesca, Marie‐Pierre Moizard, Gérald Bussy et al. · American Journal of Medical Genetics Part A · 2013 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Diagnostic Criteria for Cystic Fibrosis in Men with Congenital Absence of the Vas Deferens

I. Durieu, F Bey-Omar, J Rollet et al. · Medicine · 1995 · 40 citations

Medicine, Pathology, Infertility +2

Cystic fibrosis phenotype evaluation and paternity outcome in 50 males with congenital bilateral absence of vas deferens

R. Nove Josserand, F Bey-Omar, J Rollet et al. · Human Reproduction · 2001 · 26 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Campomelic acampomelic dysplasia presenting with increased nuchal translucency in the first trimester

Laurence Michel‐Calemard, Gaëtan Lesca, Yves Morel et al. · Prenatal Diagnosis · 2004 · 23 citations

Medicine, Endocrinology, Obstetrics +16

Refining the phenotypical and mutational spectrum of Taybi‐Linder syndrome

Audrey Putoux, Amerh Alqahtani, L Pinson et al. · Clinical Genetics · 2016 · 20 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17