Nathalie Leporrier
Centre Hospitalier Universitaire de Caen Normandie(FR)Université de Caen Normandie(FR)
Publications by Year
Research Areas
Prenatal Screening and Diagnostics, Genomic variations and chromosomal abnormalities, Parvovirus B19 Infection Studies, Chromosomal and Genetic Variations, Cystic Fibrosis Research Advances
Most-Cited Works
- → Second‐trimester Down syndrome maternal serum marker screening: a prospective study of 11 040 twin pregnancies(2008)175 cited
- → The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients(2012)133 cited
- → Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes(2013)105 cited
- → A paternally transmitted complex chromosomal rearrangement (CCR) involving chromosomes 2, 6, and 18 includes eight breakpoints and five insertional translocations (ITs) through three generations(2009)86 cited
- → Supernumerary marker chromosomes management in prenatal diagnosis(2008)85 cited
- → Autologous stem cell transplantation as a first-line treatment strategy for chronic lymphocytic leukemia: a multicenter, randomized, controlled trial from the SFGM-TC and GFLLC(2011)69 cited