Agnès Choiset

Chromosomal prenatal diagnosis: Study of 936 cases of intrauterine abnormalities after ultrasound assessment

Patrice Eydoux, Agnès Choiset, Nathalie Le Porrier et al. · Prenatal Diagnosis · 1989 · 117 citations

Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures

Jeanne Amiel, Yolanda Espinosa‐Parrilla, Julie Steffann et al. · The American Journal of Human Genetics · 2001 · 110 citations · Full text

Smadip1 Truncating Mutations, Developmental Biology, Mendelian Disorder +10

Intrachromosomal insertion mimicking a pericentric inversion: Molecular cytogenetic characterization of a three break rearrangement of chromosome 20

Azarnouche Ardalan, Marguerite Prieur, Agnès Choiset et al. · American Journal of Medical Genetics Part A · 2005 · 93 citations · Full text

Prenatal diagnosis of Niemann-Pick type C disease: current strategy from an experience of 37 pregnancies at risk.

M. T. Vanier, Claire Rodriguez‐Lafrasse, Robert Rousson et al. · PubMed · 1992 · 57 citations

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

Céline Poirsier, Justine Besseau-Ayasse, Caroline Schluth‐Bolard et al. · European Journal of Human Genetics · 2015 · 52 citations · Full text

Epidemiology, Clinical Population, Diagnosis +3