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Nicole Weisschuh

Showing results (1-10 of 89) with videos related to

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Molecular Vision|April 18, 2012
A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridiaNicole Weisschuh, Bernd Wissinger, Eugen Gramer
Journal of Glaucoma|October 10, 2017
Optic Disc Drusen and Family History of Glaucoma-Results of a Patient-directed SurveyGwendolyn Gramer, Eugen Gramer, Nicole Weisschuh
Progress in Retinal and Eye Research|June 20, 2020
Splicing mutations in inherited retinal diseasesNicole Weisschuh, Elena Buena-Atienza, Bernd Wissinger
Scientific Reports|February 21, 2023
Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicingPeggy Reuter, Magdalena Walter, Susanne Kohl, et al.
Molecular Vision|June 15, 2007
Variations in the WDR36 gene in German patients with normal tension glaucomaNicole Weisschuh, Christiane Wolf, Bernd Wissinger, et al.
American Journal of Ophthalmology|February 7, 2009
A clinical and molecular genetic study of German patients with primary congenital glaucomaNicole Weisschuh, Christiane Wolf, Bernd Wissinger, et al.
Molecular Vision|February 8, 2012
Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataractNicole Weisschuh, Sabine Aisenbrey, Bernd Wissinger, et al.
The Journal of Pathology|April 30, 2025
Comprehensive functional splicing analysis of non-canonical CNGB3 variants using in vitro minigene splice assaysKatharina Rawnsley, Nicole Weisschuh, Susanne Kohl, et al.
Experimental Eye Research|August 1, 2007
Identification of genes that are linked with optineurin expression using a combined RNAi--microarray approachNicole Weisschuh, Marcel V Alavi, Michael Bonin, et al.
Molecular Vision|April 27, 2005
Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patientsNicole Weisschuh, Dorit Neumann, Christiane Wolf, et al.
Pageof 9

Showing results (1-10 of 89) with videos related to

Sort By:
Pageof 9
Molecular Vision|April 18, 2012
A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridiaNicole Weisschuh, Bernd Wissinger, Eugen Gramer
Journal of Glaucoma|October 10, 2017
Optic Disc Drusen and Family History of Glaucoma-Results of a Patient-directed SurveyGwendolyn Gramer, Eugen Gramer, Nicole Weisschuh
Progress in Retinal and Eye Research|June 20, 2020
Splicing mutations in inherited retinal diseasesNicole Weisschuh, Elena Buena-Atienza, Bernd Wissinger
Scientific Reports|February 21, 2023
Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicingPeggy Reuter, Magdalena Walter, Susanne Kohl, et al.
Molecular Vision|June 15, 2007
Variations in the WDR36 gene in German patients with normal tension glaucomaNicole Weisschuh, Christiane Wolf, Bernd Wissinger, et al.
American Journal of Ophthalmology|February 7, 2009
A clinical and molecular genetic study of German patients with primary congenital glaucomaNicole Weisschuh, Christiane Wolf, Bernd Wissinger, et al.
Molecular Vision|February 8, 2012
Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataractNicole Weisschuh, Sabine Aisenbrey, Bernd Wissinger, et al.
The Journal of Pathology|April 30, 2025
Comprehensive functional splicing analysis of non-canonical CNGB3 variants using in vitro minigene splice assaysKatharina Rawnsley, Nicole Weisschuh, Susanne Kohl, et al.
Experimental Eye Research|August 1, 2007
Identification of genes that are linked with optineurin expression using a combined RNAi--microarray approachNicole Weisschuh, Marcel V Alavi, Michael Bonin, et al.
Molecular Vision|April 27, 2005
Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patientsNicole Weisschuh, Dorit Neumann, Christiane Wolf, et al.
Pageof 9