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ABOUT JoVE

Overview Leadership Blog JoVE Help Center

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Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

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N De Roux

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Human Molecular Genetics|May 18, 2000

MECP2 mutations account for most cases of typical forms of Rett syndromeT Bienvenu, A Carrié, N de Roux, et al.

The Journal of Clinical Endocrinology and Metabolism|December 1, 1996

Four families with loss of function mutations of the thyrotropin receptorN de Roux, M Misrahi, R Brauner, et al.

European Journal of Medical Genetics|February 14, 2006

Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular updateC Philippe, L Villard, N De Roux, et al.

European Journal of Endocrinology|September 13, 2014

Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutationsH E Ramos, A Carré, L Chevrier, et al.

Pageof 3

Search research articles

Showing results (21-30 of 24) with videos related to

Sort By:

Pageof 3

You have reached the last page of results.This site can display upto 24 results.

Human Molecular Genetics|May 18, 2000

MECP2 mutations account for most cases of typical forms of Rett syndromeT Bienvenu, A Carrié, N de Roux, et al.

The Journal of Clinical Endocrinology and Metabolism|December 1, 1996

Four families with loss of function mutations of the thyrotropin receptorN de Roux, M Misrahi, R Brauner, et al.

European Journal of Medical Genetics|February 14, 2006

Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular updateC Philippe, L Villard, N De Roux, et al.

European Journal of Endocrinology|September 13, 2014

Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutationsH E Ramos, A Carré, L Chevrier, et al.

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