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L Tranebjaerg

Showing results (81-90 of 107) with videos related to

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Clinical Dysmorphology|November 14, 1997
Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndromeJ Clayton-Smith, B Kerr, H Brunner, et al.
American Journal of Human Genetics|June 13, 2001
A common ancestral origin of the frequent and widespread 2299delG USH2A mutationB Dreyer, L Tranebjaerg, V Brox, et al.
American Journal of Medical Genetics|March 1, 1994
Clinical diagnosis of the Usher syndromes. Usher Syndrome ConsortiumR J Smith, C I Berlin, J F Hejtmancik, et al.
Genomics|August 1, 1989
Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21M K McCormick, A Schinzel, M B Petersen, et al.
Experimental and Clinical Immunogenetics|January 1, 1995
Fluorescent detection of microsatellite polymorphisms: properdin deficiency linked to PFC microsatelliteD Agardi, M Pigg, A G Sjöholm, et al.
Cell|February 22, 1991
Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndromeM V Bell, M C Hirst, Y Nakahori, et al.
Journal of the Neurological Sciences|May 20, 1998
Machado-Joseph disease in three Scandinavian familiesT Løkkegaard, J E Nielsen, L Hasholt, et al.
Clinical Genetics|January 23, 2013
SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutationsN D Rendtorff, I Schrijver, M Lodahl, et al.
European Journal of Human Genetics : EJHG|August 22, 2000
Founder effect in spinal and bulbar muscular atrophy (SBMA) in ScandinaviaA Lund, B Udd, V Juvonen, et al.
Nature Genetics|October 1, 1996
A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindnessH Jin, M May, L Tranebjaerg, et al.
Pageof 11

Showing results (81-90 of 107) with videos related to

Sort By:
Pageof 11
Clinical Dysmorphology|November 14, 1997
Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndromeJ Clayton-Smith, B Kerr, H Brunner, et al.
American Journal of Human Genetics|June 13, 2001
A common ancestral origin of the frequent and widespread 2299delG USH2A mutationB Dreyer, L Tranebjaerg, V Brox, et al.
American Journal of Medical Genetics|March 1, 1994
Clinical diagnosis of the Usher syndromes. Usher Syndrome ConsortiumR J Smith, C I Berlin, J F Hejtmancik, et al.
Genomics|August 1, 1989
Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21M K McCormick, A Schinzel, M B Petersen, et al.
Experimental and Clinical Immunogenetics|January 1, 1995
Fluorescent detection of microsatellite polymorphisms: properdin deficiency linked to PFC microsatelliteD Agardi, M Pigg, A G Sjöholm, et al.
Cell|February 22, 1991
Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndromeM V Bell, M C Hirst, Y Nakahori, et al.
Journal of the Neurological Sciences|May 20, 1998
Machado-Joseph disease in three Scandinavian familiesT Løkkegaard, J E Nielsen, L Hasholt, et al.
Clinical Genetics|January 23, 2013
SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutationsN D Rendtorff, I Schrijver, M Lodahl, et al.
European Journal of Human Genetics : EJHG|August 22, 2000
Founder effect in spinal and bulbar muscular atrophy (SBMA) in ScandinaviaA Lund, B Udd, V Juvonen, et al.
Nature Genetics|October 1, 1996
A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindnessH Jin, M May, L Tranebjaerg, et al.
Pageof 11