Nicole Joyé

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Audrey Putoux, Sophie Thomas, Karlien L. M. Coene et al. · Nature Genetics · 2011 · 239 citations · Full text

Developmental Anomaly, Mendelian Disorder, Kif7 Mutations +5

Phenotypic spectrum of CHARGE syndrome in fetuses with <i>CHD7</i> truncating mutations correlates with expression during human development

Damien Sanlaville, Heather Etchevers, Marie Gonzalès et al. · Journal of Medical Genetics · 2005 · 239 citations · Full text

Karyotypes of 1142 couples with recurrent abortion.

Portnoï Mf, Nicole Joyé, van den Akker J et al. · PubMed · 1988 · 74 citations

Fertility, Cytogenetics, Genetics +16

Phenotypic spectrum of fetal Smith–Lemli–Opitz syndrome

Chloé Quēlin, Philippe Loget, Alain Verloès et al. · European Journal of Medical Genetics · 2011 · 45 citations · Full text

Developmental Anomaly, Fetal Smith–lemli–opitz Syndrome, Developmental Biology +4

Mosaic‐activating <i>FGFR2</i> mutation in two fetuses with papillomatous pedunculated sebaceous naevus

Paul Kuentz, Sylvie Fraïtag, M. Gonzalés et al. · British Journal of Dermatology · 2016 · 29 citations

Sebaceous Naevus, Genetics, Pathology +18