N. Morichon-Delvallez

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

Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: A Case Report

Valérie Malan, Roselyne Gesny, N. Morichon-Delvallez et al. · Human Reproduction · 2007 · 103 citations

Fertility, Cytogenetics, Genetics +21

Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis

Anne-Sophie Lèbre, Vincent Morinière, Olivier Dunand et al. · European Journal of Human Genetics · 2009 · 81 citations · Full text

Infertility, Urology, Nephropathic Cystinosis +4

Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy

Christelle Golzio, Jessica Guirchoun, Catherine Ozilou et al. · Prenatal Diagnosis · 2006 · 75 citations

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

Marlène Rio, Valérie Malan, Sarah Boissel et al. · European Journal of Human Genetics · 2009 · 74 citations · Full text

Fmr1 Gene, Mendelian Disorder, Genetic Disorder +9