Clothilde Estève

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility

Clothilde Estève, Ludmila Francescatto, Perciliz L. Tan et al. · The American Journal of Human Genetics · 2018 · 63 citations · Full text

Bone Fragility, Mendelian Disorder, Genetic Disorder +10

Eosinophilic gastritis due to Anisakis: a case report.

Clothilde Estève, A. Resano, P Díaz-Tejeiro et al. · PubMed · 2000 · 33 citations

Two novel missense mutations in <i>FGD4/FRABIN</i> cause Charcot‐Marie‐Tooth type 4H (CMT4H)

Cécile Baudot, Clothilde Estève, Christel Castro et al. · Journal of the Peripheral Nervous System · 2012 · 20 citations

Genetics, Genetic Epidemiology, Molecular Biology +16

Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot–Marie–Tooth disease 4H

Lara El-Bazzal, Adeline Ghata, Clothilde Estève et al. · Brain · 2022 · 11 citations · Full text

A new mutation in the C‐terminal end of <i>TTC37</i> leading to a mild form of syndromic diarrhea/tricho‐hepato‐enteric syndrome in seven patients from two families

Alexandre Fabre, Laetitia‐Marie Petit, Lars Folmer Hansen et al. · American Journal of Medical Genetics Part A · 2018 · 10 citations