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Nicole Weisschuh

Showing results (11-20 of 89) with videos related to

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International Journal of Molecular Sciences|May 27, 2023
Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German CohortDitta Zobor, Britta Brühwiler, Eberhart Zrenner, et al.
Investigative Ophthalmology & Visual Science|August 29, 2006
Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformationsNicole Weisschuh, Paul Dressler, Frank Schuettauf, et al.
Genes|April 3, 2021
An Assessment of GUCA1C Variants in Primary Congenital GlaucomaEmmanuelle Souzeau, Nicole Weisschuh, Jamie E Craig, et al.
BMC Genetics|January 30, 2010
Mitochondrial haplogroup U is associated with a reduced risk to develop exfoliation glaucoma in the German populationChristiane Wolf, Eugen Gramer, Bertram Müller-Myhsok, et al.
JAMA Ophthalmology|January 31, 2020
Genetic Heritability of Pigmentary Glaucoma and Associations With Other Eye PhenotypesMark J Simcoe, Nicole Weisschuh, Bernd Wissinger, et al.
BMC Medical Genetics|November 27, 2020
First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy - a case reportNicole Weisschuh, Pascale Mazzola, Tilman Heinrich, et al.
Journal of Glaucoma|April 18, 2009
Lysyl oxidase-like 1 gene polymorphisms in German patients with normal tension glaucoma, pigmentary glaucoma and exfoliation glaucomaChristiane Wolf, Eugen Gramer, Bertram Müller-Myhsok, et al.
BMC Medical Genetics|September 17, 2009
Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control studyChristiane Wolf, Eugen Gramer, Bertram Müller-Myhsok, et al.
International Journal of Molecular Sciences|June 2, 2021
Clinical Characteristics of <i>POC1B</i>-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site VariantsNicole Weisschuh, Pascale Mazzola, Miriam Bertrand, et al.
Human Molecular Genetics|September 24, 2021
Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanismsNicole Weisschuh, Valerio Marino, Karin Schäferhoff, et al.
Pageof 9

Showing results (11-20 of 89) with videos related to

Sort By:
Pageof 9
International Journal of Molecular Sciences|May 27, 2023
Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German CohortDitta Zobor, Britta Brühwiler, Eberhart Zrenner, et al.
Investigative Ophthalmology & Visual Science|August 29, 2006
Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformationsNicole Weisschuh, Paul Dressler, Frank Schuettauf, et al.
Genes|April 3, 2021
An Assessment of GUCA1C Variants in Primary Congenital GlaucomaEmmanuelle Souzeau, Nicole Weisschuh, Jamie E Craig, et al.
BMC Genetics|January 30, 2010
Mitochondrial haplogroup U is associated with a reduced risk to develop exfoliation glaucoma in the German populationChristiane Wolf, Eugen Gramer, Bertram Müller-Myhsok, et al.
JAMA Ophthalmology|January 31, 2020
Genetic Heritability of Pigmentary Glaucoma and Associations With Other Eye PhenotypesMark J Simcoe, Nicole Weisschuh, Bernd Wissinger, et al.
BMC Medical Genetics|November 27, 2020
First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy - a case reportNicole Weisschuh, Pascale Mazzola, Tilman Heinrich, et al.
Journal of Glaucoma|April 18, 2009
Lysyl oxidase-like 1 gene polymorphisms in German patients with normal tension glaucoma, pigmentary glaucoma and exfoliation glaucomaChristiane Wolf, Eugen Gramer, Bertram Müller-Myhsok, et al.
BMC Medical Genetics|September 17, 2009
Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control studyChristiane Wolf, Eugen Gramer, Bertram Müller-Myhsok, et al.
International Journal of Molecular Sciences|June 2, 2021
Clinical Characteristics of <i>POC1B</i>-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site VariantsNicole Weisschuh, Pascale Mazzola, Miriam Bertrand, et al.
Human Molecular Genetics|September 24, 2021
Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanismsNicole Weisschuh, Valerio Marino, Karin Schäferhoff, et al.
Pageof 9