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B Wissinger

Showing results (41-50 of 61) with videos related to

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The British Journal of Ophthalmology|August 1, 1996
Analysis of 21 Stargardt's disease families confirms a major locus on chromosome 1p with evidence for non-allelic heterogeneity in a minority of casesB H Weber, S Sander, C Kopp, et al.
Investigative Ophthalmology & Visual Science|January 15, 1999
Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesisM W Seeliger, H K Biesalski, B Wissinger, et al.
Biochemical and Biophysical Research Communications|May 19, 1997
Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathyB Wissinger, D Besch, B Baumann, et al.
International Journal of Molecular Medicine|June 16, 2001
Case populations must match the respective disease model: Genotype diversity causes linkage disequilibrium mapping failure in monogenic disordersK Pesch, J Tomiuk, M Broghammer, et al.
The British Journal of Ophthalmology|September 20, 2005
Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosaA Schuster, N Weisschuh, H Jägle, et al.
Human Molecular Genetics|July 7, 2001
OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritanceU E Pesch, B Leo-Kottler, S Mayer, et al.
Nature Genetics|July 14, 1998
Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channelS Kohl, T Marx, I Giddings, et al.
Investigative Ophthalmology & Visual Science|June 8, 1999
Direct visual resolution of gene copy number in the human photopigment gene arrayS Wolf, L T Sharpe, H J Schmidt, et al.
Journal of Medical Genetics|February 3, 2009
Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophyN Fuhrmann, M V Alavi, P Bitoun, et al.
The American Journal of Clinical Nutrition|May 8, 1999
Biochemical but not clinical vitamin A deficiency results from mutations in the gene for retinol binding proteinH K Biesalski, J Frank, S C Beck, et al.
Pageof 7

Showing results (41-50 of 61) with videos related to

Sort By:
Pageof 7
The British Journal of Ophthalmology|August 1, 1996
Analysis of 21 Stargardt's disease families confirms a major locus on chromosome 1p with evidence for non-allelic heterogeneity in a minority of casesB H Weber, S Sander, C Kopp, et al.
Investigative Ophthalmology & Visual Science|January 15, 1999
Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesisM W Seeliger, H K Biesalski, B Wissinger, et al.
Biochemical and Biophysical Research Communications|May 19, 1997
Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathyB Wissinger, D Besch, B Baumann, et al.
International Journal of Molecular Medicine|June 16, 2001
Case populations must match the respective disease model: Genotype diversity causes linkage disequilibrium mapping failure in monogenic disordersK Pesch, J Tomiuk, M Broghammer, et al.
The British Journal of Ophthalmology|September 20, 2005
Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosaA Schuster, N Weisschuh, H Jägle, et al.
Human Molecular Genetics|July 7, 2001
OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritanceU E Pesch, B Leo-Kottler, S Mayer, et al.
Nature Genetics|July 14, 1998
Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channelS Kohl, T Marx, I Giddings, et al.
Investigative Ophthalmology & Visual Science|June 8, 1999
Direct visual resolution of gene copy number in the human photopigment gene arrayS Wolf, L T Sharpe, H J Schmidt, et al.
Journal of Medical Genetics|February 3, 2009
Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophyN Fuhrmann, M V Alavi, P Bitoun, et al.
The American Journal of Clinical Nutrition|May 8, 1999
Biochemical but not clinical vitamin A deficiency results from mutations in the gene for retinol binding proteinH K Biesalski, J Frank, S C Beck, et al.
Pageof 7