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Showing results (111-120 of 127) with videos related to

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Molecular Psychiatry|February 25, 2009
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autismF Laumonnier, C Shoubridge, C Antar, et al.
Nature Genetics|October 4, 2000
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardationK Kutsche, H Yntema, A Brandt, et al.
American Journal of Medical Genetics|August 18, 2000
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardationT Bienvenu, V des Portes, N McDonell, 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.
Nature|May 15, 1998
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardationP Billuart, T Bienvenu, N Ronce, 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.
Genomics|January 25, 2000
A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardationH G Yntema, B van den Helm, J Kissing, et al.
Human Molecular Genetics|April 20, 2001
MECP2 is highly mutated in X-linked mental retardationP Couvert, T Bienvenu, C Aquaviva, et al.
Journal of Medical Genetics|October 4, 2005
Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palateF Laumonnier, S Holbert, N Ronce, et al.
Journal of Medical Genetics|August 30, 2008
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutationsN Bahi-Buisson, K Poirier, N Boddaert, et al.
Pageof 13

Showing results (111-120 of 127) with videos related to

Sort By:
Pageof 13
Molecular Psychiatry|February 25, 2009
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autismF Laumonnier, C Shoubridge, C Antar, et al.
Nature Genetics|October 4, 2000
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardationK Kutsche, H Yntema, A Brandt, et al.
American Journal of Medical Genetics|August 18, 2000
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardationT Bienvenu, V des Portes, N McDonell, 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.
Nature|May 15, 1998
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardationP Billuart, T Bienvenu, N Ronce, 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.
Genomics|January 25, 2000
A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardationH G Yntema, B van den Helm, J Kissing, et al.
Human Molecular Genetics|April 20, 2001
MECP2 is highly mutated in X-linked mental retardationP Couvert, T Bienvenu, C Aquaviva, et al.
Journal of Medical Genetics|October 4, 2005
Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palateF Laumonnier, S Holbert, N Ronce, et al.
Journal of Medical Genetics|August 30, 2008
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutationsN Bahi-Buisson, K Poirier, N Boddaert, et al.
Pageof 13