Concepedia

Clémentine Mahaut

CM

Statistics

Publications

8

Citations

650

H-Index

8

Active since

2011

Affiliations

Inserm(Current)

Université Paris Cité

Délégation Paris 5

Institut Necker Enfants Malades

Assistance Publique – Hôpitaux de Paris

Clémentine Mahaut is an author at Inserm specializing in life sciences, genetic syndromes, and human genetics.

Publications per year

2011–2022

8

Publications

8

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

Carine Le Goff, Clémentine Mahaut, Lauren W. Wang et al. · The American Journal of Human Genetics · 2011 · 233 citations · Full text

, , +7

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

Carine Le Goff, Clémentine Mahaut, Avinash Abhyankar et al. · Nature Genetics · 2011 · 156 citations

, , +10

Molecular screening of <i>ADAMTSL2</i> gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

Slimane Allali, Carine Le Goff, I. Pressac-Diebold et al. · Journal of Medical Genetics · 2011 · 59 citations · Full text

, , +14

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

Caroline Michot, Carine Le Goff, Clémentine Mahaut et al. · European Journal of Human Genetics · 2014 · 56 citations

, , +6

Agonists of prostaglandin E <sub>2</sub> receptors as potential first in class treatment for nephronophthisis and related ciliopathies

Hugo García, Alice Serafin, Flora Silbermann et al. · Proceedings of the National Academy of Sciences · 2022 · 45 citations · Full text

, , +15

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