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T Bienvenu

Showing results (71-80 of 92) with videos related to

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Neurogenetics|October 20, 2005
Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosisK Poirier, D Lacombe, B Gilbert-Dussardier, et al.
European Journal of Human Genetics : EJHG|March 1, 1997
Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardationT Bienvenu, H Der-Sarkissian, P Billuart, et al.
Molecular Psychiatry|April 19, 2021
Wnt/β-catenin pathway and cell adhesion deregulation in CSDE1-related intellectual disability and autism spectrum disordersE El Khouri, J Ghoumid, D Haye, et al.
Nature Genetics|June 10, 1998
Mutations in GDI1 are responsible for X-linked non-specific mental retardationP D'Adamo, A Menegon, C Lo Nigro, et al.
Journal of Medical Genetics|July 10, 2007
Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal gangliaY Saillour, G Zanni, V Des Portes, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|November 4, 2018
Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR geneA Bergougnoux, K Délétang, A Pommier, 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.
Pageof 10

Showing results (71-80 of 92) with videos related to

Sort By:
Pageof 10
Neurogenetics|October 20, 2005
Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosisK Poirier, D Lacombe, B Gilbert-Dussardier, et al.
European Journal of Human Genetics : EJHG|March 1, 1997
Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardationT Bienvenu, H Der-Sarkissian, P Billuart, et al.
Molecular Psychiatry|April 19, 2021
Wnt/β-catenin pathway and cell adhesion deregulation in CSDE1-related intellectual disability and autism spectrum disordersE El Khouri, J Ghoumid, D Haye, et al.
Nature Genetics|June 10, 1998
Mutations in GDI1 are responsible for X-linked non-specific mental retardationP D'Adamo, A Menegon, C Lo Nigro, et al.
Journal of Medical Genetics|July 10, 2007
Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal gangliaY Saillour, G Zanni, V Des Portes, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|November 4, 2018
Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR geneA Bergougnoux, K Délétang, A Pommier, 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.
Pageof 10