Nicole Joyé
Hudson Institute(US)Inserm(FR)Sorbonne Université(FR)John Wiley & Sons (United Kingdom)(GB)Physiopathologie et Epidémiologie des Maladies Respiratoires(FR)Expression Génétique Microbienne(FR)
Publications by Year
Research Areas
Prenatal Screening and Diagnostics, Sperm and Testicular Function, Reproductive Biology and Fertility, Epigenetics and DNA Methylation, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Most-Cited Works
- → KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes(2011)241 cited
- → Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development(2005)239 cited
- Karyotypes of 1142 couples with recurrent abortion.(1988)
- → Phenotypic spectrum of fetal Smith–Lemli–Opitz syndrome(2011)45 cited
- → Semen Analysis in Subfertile Balanced-Translocation Carriers(1980)29 cited
- → De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy(2015)29 cited
- → Mosaic‐activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus(2016)