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T Bienvenu

Showing results (61-70 of 92) with videos related to

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Clinical Genetics|June 4, 1998
Inherited microdeletion in Xp21.3-22.1 involved in non-specific mental retardationV des Portes, A Carrié, P Billuart, et al.
Annales De Genetique|January 1, 1997
Molecular diagnosis of congenital bilateral absence of the vas deferens: analyses of the CFTR gene in 64 French patientsT Bienvenu, M Adjiman, N Thiounn, et al.
Annales De Biologie Clinique|October 9, 2002
[RNA isolation and purification methods]J P Bastard, S Chambert, F Ceppa, et al.
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.
Journal of Medical Genetics|August 27, 1998
Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index caseF Muller, M Dommergues, B Simon-Bouy, 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.
Human Molecular Genetics|July 1, 1996
Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardationP Billuart, M C Vinet, V des Portes, et al.
Journal of Medical Genetics|November 13, 2007
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathyH Rosas-Vargas, N Bahi-Buisson, C Philippe, et al.
American Journal of Medical Genetics|July 12, 1996
X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pterV des Portes, L Bachner, T Brüls, et al.
Human Mutation|June 21, 2006
A new large CFTR rearrangement illustrates the importance of searching for complex allelesF Niel, M Legendre, T Bienvenu, et al.
Pageof 10

Showing results (61-70 of 92) with videos related to

Sort By:
Pageof 10
Clinical Genetics|June 4, 1998
Inherited microdeletion in Xp21.3-22.1 involved in non-specific mental retardationV des Portes, A Carrié, P Billuart, et al.
Annales De Genetique|January 1, 1997
Molecular diagnosis of congenital bilateral absence of the vas deferens: analyses of the CFTR gene in 64 French patientsT Bienvenu, M Adjiman, N Thiounn, et al.
Annales De Biologie Clinique|October 9, 2002
[RNA isolation and purification methods]J P Bastard, S Chambert, F Ceppa, et al.
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.
Journal of Medical Genetics|August 27, 1998
Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index caseF Muller, M Dommergues, B Simon-Bouy, 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.
Human Molecular Genetics|July 1, 1996
Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardationP Billuart, M C Vinet, V des Portes, et al.
Journal of Medical Genetics|November 13, 2007
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathyH Rosas-Vargas, N Bahi-Buisson, C Philippe, et al.
American Journal of Medical Genetics|July 12, 1996
X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pterV des Portes, L Bachner, T Brüls, et al.
Human Mutation|June 21, 2006
A new large CFTR rearrangement illustrates the importance of searching for complex allelesF Niel, M Legendre, T Bienvenu, et al.
Pageof 10