Researchclopedia

Research Researchers Institutions Topics Submit About

Command Palette

Search for a command to run...

Researchclopedia

Research Researchers Institutions About

© 2026 Researchclopedia. Powered by OpenAlex under CC0 license.

Elisabeth Sarrazin | Researchclopedia

Back to researchers

Elisabeth Sarrazin

Centre Hospitalier Universitaire de Martinique

43

Works

471

Citations

13

h-index

14

i10-index

Research Topics

Genomics and Rare Diseases Muscle Physiology and Disorders Genetics and Neurodevelopmental Disorders

Affiliations

University of Washington2014–2014

Centre National d'Études Spatiales2023–2023

Center for the Study of Social Policy2025–2025

Hôpital Cochin2018–2018

Centre Hospitalier Universitaire de Martinique2005–2026

Top Works

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

Henri Margot,Guilaine Boursier,et al.

201958 citations

Connective tissue disorders research

Neurogenetic and Muscular Disorders Research

DLG4-related synaptopathy: a new rare brain disorder

Agustí Rodríguez‐Palmero,Melissa M. Boerrigter,et al.

202150 citations

Growth and psychomotor development of patients with Duchenne muscular dystrophy

Elisabeth Sarrazin,Maja von der Hagen,et al.

201350 citations

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

Sébastien Moutton,Patricia Fergelot,et al.

201630 citations

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

Patrick Callier,Bernard Aral,et al.

201325 citations

Truncating variants of the <i>DLG4</i> gene are responsible for intellectual disability with marfanoid features

Sébastien Moutton,Ange‐Line Bruel,et al.

201824 citations

Phenotypic similarities and differences in patients with a p.Met112Ile mutation in <i>SOX10</i>

Véronique Pingault,L. Pierre-Louis,et al.

201421 citations

Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome

Clarisse Billon,Salma Adham,et al.

202117 citations

Prise en charge des abdomens ouverts par la thérapie vacuum-assisted closure (VAC®) : évaluation rétrospective de 22 malades

J.-P. Arigon,Olivier Chapuis,et al.

200815 citations