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D Lacombe

Showing results (201-210 of 225) with videos related to

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Journal of Medical Genetics|May 2, 2006
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndromeW Seifert, M Holder-Espinasse, S Spranger, 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.
American Journal of Medical Genetics|April 29, 1998
CHARGE syndrome: report of 47 cases and reviewA L Tellier, V Cormier-Daire, V Abadie, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 18, 2009
Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutationsG Solé, I Coupry, C Rooryck, et al.
Clinical Genetics|September 10, 2004
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneityH Blons, D Feldmann, V Duval, et al.
Human Molecular Genetics|September 1, 1996
Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4Y J de Kok, E R Vossenaar, C W Cremers, et al.
Redox Biology|April 2, 2025
Repression of oxidative phosphorylation by NR2F2, MTERF3 and GDF15 in human skin under high-glucose stressS Ley-Ngardigal, S Claverol, L Sobilo, et al.
Journal of Medical Genetics|May 24, 2005
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21M Ali, L J Highet, D Lacombe, et al.
Annals of Neurology|August 12, 2000
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C geneG Bonne, E Mercuri, A Muchir, et al.
Journal of Medical Genetics|January 31, 2006
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 casesB Kerr, M-A Delrue, S Sigaudy, et al.
Pageof 23

Showing results (201-210 of 225) with videos related to

Sort By:
Pageof 23
Journal of Medical Genetics|May 2, 2006
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndromeW Seifert, M Holder-Espinasse, S Spranger, 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.
American Journal of Medical Genetics|April 29, 1998
CHARGE syndrome: report of 47 cases and reviewA L Tellier, V Cormier-Daire, V Abadie, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 18, 2009
Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutationsG Solé, I Coupry, C Rooryck, et al.
Clinical Genetics|September 10, 2004
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneityH Blons, D Feldmann, V Duval, et al.
Human Molecular Genetics|September 1, 1996
Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4Y J de Kok, E R Vossenaar, C W Cremers, et al.
Redox Biology|April 2, 2025
Repression of oxidative phosphorylation by NR2F2, MTERF3 and GDF15 in human skin under high-glucose stressS Ley-Ngardigal, S Claverol, L Sobilo, et al.
Journal of Medical Genetics|May 24, 2005
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21M Ali, L J Highet, D Lacombe, et al.
Annals of Neurology|August 12, 2000
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C geneG Bonne, E Mercuri, A Muchir, et al.
Journal of Medical Genetics|January 31, 2006
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 casesB Kerr, M-A Delrue, S Sigaudy, et al.
Pageof 23