Jean‐Marie Rival

Twelve new patients with 13q deletion syndrome: Genotype–phenotype analyses in progress

Chloé Quēlin, Claude Bendavid, Christèle Dubourg et al. · European Journal of Medical Genetics · 2008 · 129 citations

Life Sciences, Genetics, Molecular Genetics +16

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency

Sophie Monnot, Val��rie Serre, Bernadette Chadefaux-Vekemans et al. · Human Mutation · 2009 · 38 citations

Life Sciences, Genetics, Molecular Genetics +16

46,XY gonadal dysgenesis: Evidence for autosomal dominant transmission in a large kindred

Cédric Le Caignec, S. Baron, Ken McElreavey et al. · American Journal of Medical Genetics Part A · 2002 · 36 citations

Medicine, Endocrinology, Urology +17

Persisting Spongy Myocardium

Norbert Winer, Michael Lefevre, M.F. Nomballais et al. · Fetal Diagnosis and Therapy · 1998 · 33 citations

Medicine, Cardiology, Obstetrics +16

Relationship of non‐visualization of the fetal gallbladder and amniotic fluid digestive enzymes analysis to outcome

Sophie Dreux, Mathias Boughanim, Catherine Lépinard et al. · Prenatal Diagnosis · 2012 · 33 citations · Full text

Medicine, Maternal Health, Obstetrics +17