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L Tranebjaerg

Showing results (51-60 of 107) with videos related to

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European Journal of Human Genetics : EJHG|July 26, 2000
Identification of novel USH2A mutations: implications for the structure of USH2A proteinB Dreyer, L Tranebjaerg, T Rosenberg, et al.
Journal of Medical Genetics|October 3, 1999
A new gene (DYX3) for dyslexia is located on chromosome 2T Fagerheim, P Raeymaekers, F E Tønnessen, et al.
Journal of Medical Genetics|September 3, 2002
Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan diseaseT R Olsen, L Tranebjaerg, E A Kvittingen, et al.
European Journal of Human Genetics : EJHG|September 26, 2001
Analysis of FMR1 (CGG)(n) alleles and DXS548-FRAXAC1 haplotypes in three European circumpolar populations: traces of genetic relationship with AsiaL A Larsen, J Vuust, M Nystad, et al.
European Journal of Human Genetics : EJHG|July 6, 2000
A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndromeL Tranebjaerg, B C Hamel, F J Gabreels, et al.
American Journal of Medical Genetics|July 12, 1996
XLMR genes: update 1996H A Lubs, P Chiurazzi, J F Arena, et al.
The Journal of Biological Chemistry|April 16, 1998
Naturally occurring mutants of human steroid 21-hydroxylase (P450c21) pinpoint residues important for enzyme activity and stabilityA Nikoshkov, S Lajic, A Vlamis-Gardikas, et al.
American Journal of Medical Genetics. Supplement|January 1, 1990
Clinical, cytogenetic, and molecular genetic characterization of two unrelated patients with different duplications of 21qM B Petersen, L Tranebjaerg, M K McCormick, et al.
Acta Paediatrica Scandinavica|November 1, 1991
Immunoglobulin and complement studies in children with Schönlein-Henoch Syndrome and other vasculitic diseasesS Petersen, E Taaning, T Söderström, et al.
European Journal of Human Genetics : EJHG|January 1, 1997
Genetic services in NorwayL Tranebjaerg, A L Børresen-Dale, I L Hansteen, et al.
Pageof 11

Showing results (51-60 of 107) with videos related to

Sort By:
Pageof 11
European Journal of Human Genetics : EJHG|July 26, 2000
Identification of novel USH2A mutations: implications for the structure of USH2A proteinB Dreyer, L Tranebjaerg, T Rosenberg, et al.
Journal of Medical Genetics|October 3, 1999
A new gene (DYX3) for dyslexia is located on chromosome 2T Fagerheim, P Raeymaekers, F E Tønnessen, et al.
Journal of Medical Genetics|September 3, 2002
Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan diseaseT R Olsen, L Tranebjaerg, E A Kvittingen, et al.
European Journal of Human Genetics : EJHG|September 26, 2001
Analysis of FMR1 (CGG)(n) alleles and DXS548-FRAXAC1 haplotypes in three European circumpolar populations: traces of genetic relationship with AsiaL A Larsen, J Vuust, M Nystad, et al.
European Journal of Human Genetics : EJHG|July 6, 2000
A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndromeL Tranebjaerg, B C Hamel, F J Gabreels, et al.
American Journal of Medical Genetics|July 12, 1996
XLMR genes: update 1996H A Lubs, P Chiurazzi, J F Arena, et al.
The Journal of Biological Chemistry|April 16, 1998
Naturally occurring mutants of human steroid 21-hydroxylase (P450c21) pinpoint residues important for enzyme activity and stabilityA Nikoshkov, S Lajic, A Vlamis-Gardikas, et al.
American Journal of Medical Genetics. Supplement|January 1, 1990
Clinical, cytogenetic, and molecular genetic characterization of two unrelated patients with different duplications of 21qM B Petersen, L Tranebjaerg, M K McCormick, et al.
Acta Paediatrica Scandinavica|November 1, 1991
Immunoglobulin and complement studies in children with Schönlein-Henoch Syndrome and other vasculitic diseasesS Petersen, E Taaning, T Söderström, et al.
European Journal of Human Genetics : EJHG|January 1, 1997
Genetic services in NorwayL Tranebjaerg, A L Børresen-Dale, I L Hansteen, et al.
Pageof 11