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Nature|May 15, 1998

Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardationP Billuart, T Bienvenu, N Ronce, et al.

Human Molecular Genetics|July 21, 1998

Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitorT Bienvenu, V des Portes, A Saint Martin, et al.

Journal of Medical Genetics|March 1, 1997

Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22V des Portes, J M Pinard, D Smadja, et al.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|January 17, 2012

[Diagnostic investigations for an unexplained developmental disability]A Verloes, D Héron, T Billette de Villemeur, et al.

Human Molecular Genetics|April 20, 2001

MECP2 is highly mutated in X-linked mental retardationP Couvert, T Bienvenu, C Aquaviva, et al.

Clinical Genetics|July 4, 2015

Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndromeS Dimassi, A Labalme, D Ville, et al.

Nature Genetics|February 2, 2000

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocationR Zemni, T Bienvenu, M C Vinet, et al.

Clinical Genetics|October 21, 2016

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?S El Chehadeh, R Touraine, F Prieur, et al.

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Showing results (41-50 of 48) with videos related to

Sort By:

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You have reached the last page of results.This site can display upto 48 results.

Nature|May 15, 1998

Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardationP Billuart, T Bienvenu, N Ronce, et al.

Human Molecular Genetics|July 21, 1998

Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitorT Bienvenu, V des Portes, A Saint Martin, et al.

Journal of Medical Genetics|March 1, 1997

Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22V des Portes, J M Pinard, D Smadja, et al.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|January 17, 2012

[Diagnostic investigations for an unexplained developmental disability]A Verloes, D Héron, T Billette de Villemeur, et al.

Human Molecular Genetics|April 20, 2001

MECP2 is highly mutated in X-linked mental retardationP Couvert, T Bienvenu, C Aquaviva, et al.

Clinical Genetics|July 4, 2015

Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndromeS Dimassi, A Labalme, D Ville, et al.

Nature Genetics|February 2, 2000

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocationR Zemni, T Bienvenu, M C Vinet, et al.

Clinical Genetics|October 21, 2016

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?S El Chehadeh, R Touraine, F Prieur, et al.

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