Godeliève Morel

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

Henri Margot, Guilaine Boursier, Claire Duflos et al. · Genetics in Medicine · 2019 · 60 citations · Full text

Life Sciences, Immunology, Pathology +10

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

Thomas Husson, François Lecoquierre, Gaël Nicolas et al. · European Journal of Human Genetics · 2023 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

First evidence of <scp> <i>SOX2</i> </scp> mutations in Peters' anomaly: Lessons from molecular screening of 95 patients

Bertrand Chesneau, Marion Aubert‐Mucca, Felix Frémont et al. · Clinical Genetics · 2022 · 27 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

Frédéric Tran Mau‐Them, Julian Delanne, Anne‐Sophie Denommé‐Pichon et al. · Frontiers in Genetics · 2023 · 24 citations · Full text

Medicine, Genetics, Obstetrics +16

[Epidemiology of multiple sclerosis in Brittany].

M Gallou, M Madigand, L. Massé et al. · PubMed · 1983 · 14 citations

Medicine, Neurology, Clinical Epidemiology +7