Christel Thauvin‐Robinet

Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency

Chloé Saunier, Svein I. Støve, Bernt Popp et al. · Human Mutation · 2016 · 90 citations · Full text

Phenotype Associated, Transcriptional Regulation, Developmental Biology +12

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of <i>ANKRD11</i>

Alice Goldenberg, Florence Riccardi, Aude Tessier et al. · American Journal of Medical Genetics Part A · 2016 · 85 citations

Developmental Anomaly, Developmental Biology, Molecular Findings +13

Prenatal diagnosis and intrafamilial clinical heterogeneity of Fraser syndrome

Thierry Rousseau, Nicole Laurent, Christel Thauvin‐Robinet et al. · Prenatal Diagnosis · 2002 · 23 citations

Severe X‐linked chondrodysplasia punctata in nine new female fetuses

Mathilde Lefebvre, Fabienne Dufernez, Ange‐Line Bruel et al. · Prenatal Diagnosis · 2015 · 20 citations

Clinical and neuroimaging findings in 33 patients with <scp>MCAP</scp> syndrome: A survey to evaluate relevant endpoints for future clinical trials

Aurore Garde, Laurent Guibaud, Alice Goldenberg et al. · Clinical Genetics · 2021 · 19 citations · Full text

Future Clinical Trials, Mcap Syndrome, Neurological Disorder +23