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Britta Baumann

Showing results (1-10 of 27) with videos related to

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Molecular Vision|February 13, 2014
Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian familyDitta Zobor, Ghassan Balousha, Britta Baumann, et al.
The European Journal of Neuroscience|May 1, 2008
Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C)Katja Koeppen, Peggy Reuter, Susanne Kohl, et al.
Human Mutation|June 4, 2008
Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsiaPeggy Reuter, Katja Koeppen, Thomas Ladewig, et al.
Investigative Ophthalmology & Visual Science|November 24, 2004
Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutationsThomas Rosenberg, Britta Baumann, Susanne Kohl, et al.
Scientific Reports|April 6, 2018
Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsiaAlexandre Matet, Susanne Kohl, Britta Baumann, et al.
Molecular Vision|January 6, 2015
Five novel CNGB3 gene mutations in Polish patients with achromatopsiaAnna Wawrocka, Susanne Kohl, Britta Baumann, et al.
American Journal of Human Genetics|June 22, 2002
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsiaSusanne Kohl, Britta Baumann, Thomas Rosenberg, et al.
Investigative Ophthalmology & Visual Science|July 20, 2018
Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German CohortDitta Zobor, Gergely Zobor, Stephanie Hipp, et al.
International Journal of Molecular Sciences|August 7, 2021
Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with <i>CNGA3</i>-Associated Autosomal Recessive AchromatopsiaSusanne Kohl, Britta Baumann, Francesca Dassie, et al.
Human Mutation|August 11, 2017
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patientsAnja K Mayer, Caroline Van Cauwenbergh, Christine Rother, et al.
Pageof 3

Showing results (1-10 of 27) with videos related to

Sort By:
Pageof 3
Molecular Vision|February 13, 2014
Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian familyDitta Zobor, Ghassan Balousha, Britta Baumann, et al.
The European Journal of Neuroscience|May 1, 2008
Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C)Katja Koeppen, Peggy Reuter, Susanne Kohl, et al.
Human Mutation|June 4, 2008
Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsiaPeggy Reuter, Katja Koeppen, Thomas Ladewig, et al.
Investigative Ophthalmology & Visual Science|November 24, 2004
Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutationsThomas Rosenberg, Britta Baumann, Susanne Kohl, et al.
Scientific Reports|April 6, 2018
Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsiaAlexandre Matet, Susanne Kohl, Britta Baumann, et al.
Molecular Vision|January 6, 2015
Five novel CNGB3 gene mutations in Polish patients with achromatopsiaAnna Wawrocka, Susanne Kohl, Britta Baumann, et al.
American Journal of Human Genetics|June 22, 2002
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsiaSusanne Kohl, Britta Baumann, Thomas Rosenberg, et al.
Investigative Ophthalmology & Visual Science|July 20, 2018
Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German CohortDitta Zobor, Gergely Zobor, Stephanie Hipp, et al.
International Journal of Molecular Sciences|August 7, 2021
Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with <i>CNGA3</i>-Associated Autosomal Recessive AchromatopsiaSusanne Kohl, Britta Baumann, Francesca Dassie, et al.
Human Mutation|August 11, 2017
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patientsAnja K Mayer, Caroline Van Cauwenbergh, Christine Rother, et al.
Pageof 3