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Clinical Genetics|February 26, 2013

Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosisO M'hamdi, C Redin, C Stoetzel, et al.

Journal of Inherited Metabolic Disease|January 1, 1996

ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophyS Kemp, P A Mooyer, P A Bolhuis, et al.

Proceedings of the National Academy of Sciences of the United States of America|February 28, 1995

Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblastsN Cartier, J Lopez, P Moullier, et al.

Human Genetics|January 1, 1985

Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy familiesH Dorkins, C Junien, J L Mandel, et al.

The Journal of Clinical Investigation|May 1, 1984

Carrier detection of Hemophilia B by using a restriction site polymorphism associated with the coagulation Factor IX geneL Grunebaum, J P Cazenave, G Camerino, et al.

Neurology|November 1, 1993

Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian familiesM Ben Hamida, S Belal, G Sirugo, et al.

American Journal of Medical Genetics|February 1, 1991

New polymorphism and a new chromosome breakpoint establish the physical and genetic mapping of DXS369 in the DXS98-FRAXA intervalI Oberlé, A Vincent, N Abbadi, et al.

Molecular Psychiatry|March 24, 1999

Polyglutamine-containing proteins in schizophreniaR Joober, C Benkelfat, M Jannatipour, et al.

American Journal of Human Genetics|October 1, 1996

Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: analysis of four FRAXE families with mild mental retardation in malesV Biancalana, L Taine, J C Bouix, et al.

Human Genetics|December 1, 1989

Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemiaS Guioli, B Arveiler, B Bardoni, et al.

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Showing results (161-170 of 198) with videos related to

Sort By:

Pageof 20

Clinical Genetics|February 26, 2013

Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosisO M'hamdi, C Redin, C Stoetzel, et al.

Journal of Inherited Metabolic Disease|January 1, 1996

ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophyS Kemp, P A Mooyer, P A Bolhuis, et al.

Proceedings of the National Academy of Sciences of the United States of America|February 28, 1995

Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblastsN Cartier, J Lopez, P Moullier, et al.

Human Genetics|January 1, 1985

Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy familiesH Dorkins, C Junien, J L Mandel, et al.

The Journal of Clinical Investigation|May 1, 1984

Carrier detection of Hemophilia B by using a restriction site polymorphism associated with the coagulation Factor IX geneL Grunebaum, J P Cazenave, G Camerino, et al.

Neurology|November 1, 1993

Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian familiesM Ben Hamida, S Belal, G Sirugo, et al.

American Journal of Medical Genetics|February 1, 1991

New polymorphism and a new chromosome breakpoint establish the physical and genetic mapping of DXS369 in the DXS98-FRAXA intervalI Oberlé, A Vincent, N Abbadi, et al.

Molecular Psychiatry|March 24, 1999

Polyglutamine-containing proteins in schizophreniaR Joober, C Benkelfat, M Jannatipour, et al.

American Journal of Human Genetics|October 1, 1996

Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: analysis of four FRAXE families with mild mental retardation in malesV Biancalana, L Taine, J C Bouix, et al.

Human Genetics|December 1, 1989

Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemiaS Guioli, B Arveiler, B Bardoni, et al.

Pageof 20