Concepedia

Author

M Le Merrer

Inserm

Also Known As

M Le Merrer, M. Le Merrer, Martine Le Merrer, Martine Le Merrer

16

Publications

1.4K

Citations

9

H-Index

12

Concepts

All Affiliations

InsermHôpital Necker-Enfants MaladesUniversité Paris CitéInstitut Necker Enfants MaladesDélégation Paris 5
ML

About

M Le Merrer is an author at Inserm specializing in medicine, genetics, and pathology.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

4

4

1.1K

2

Pathology

3

3

462

3

Molecular Genetics

2

2

808

4

Cell Biology

1

1

228

5

Molecular Medicine

1

1

68

M Le Merrer

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7

Publications

1.3K

Citations

7

H-Index

YearCitations

Mutations of the TWIST gene in the Saethre-Chotzene syndrome

Vincent El Ghouzzi, M Le Merrer, Fabienne Perrin‐Schmitt,

Nature Genetics

1997

642

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,

The American Journal of Human Genetics

2011

228

Cantú Syndrome Is Caused by Mutations in ABCC9

Bregje W.M. van Bon, Christian Gilissen, Dorothy K. Grange,

The American Journal of Human Genetics

2012

166

Molecular analysis of pericentrin gene (<i>PCNT</i>) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

Marjorlaine Willems, D. Genevieve, Guntram Borck,

Journal of Medical Genetics

2009

110

Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation

Elisabeth Lajeunie, Vincent El Ghouzzi, M Le Merrer,

Journal of Medical Genetics

1999

79

Phenotypic variability at the TGF-β1 locus in Camurati-Engelmann disease

Belinda Campos‐Xavier, Jorge Saraiva, Ravi Savarirayan,

Human Genetics

2001

68

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,

Journal of Medical Genetics

2011

56

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