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Nicole Weisschuh

Showing results (81-90 of 89) with videos related to

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The Journal of Clinical Investigation|November 13, 2018
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathyMarkus Burkard, Susanne Kohl, Timm Krätzig, et al.
Nature Genetics|June 2, 2015
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsiaSusanne Kohl, Ditta Zobor, Wei-Chieh Chiang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2019
Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axisBo Gong, Houbin Zhang, Lulin Huang, et al.
Human Molecular Genetics|March 24, 2011
Common genetic variants associated with open-angle glaucomaWishal D Ramdas, Leonieke M E van Koolwijk, Hans G Lemij, et al.
HGG Advances|February 14, 2023
Whole genome sequencing for <i>USH2A</i>-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correctionJanine Reurink, Nicole Weisschuh, Alejandro Garanto, et al.
Plos Genetics|May 10, 2012
Common genetic determinants of intraocular pressure and primary open-angle glaucomaLeonieke M E van Koolwijk, Wishal D Ramdas, M Kamran Ikram, et al.
Nature Genetics|January 12, 2016
Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucomaJessica N Cooke Bailey, Stephanie J Loomis, Jae H Kang, et al.
Nature Genetics|February 24, 2015
A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndromeTin Aung, Mineo Ozaki, Takanori Mizoguchi, et al.
Nature Genetics|May 30, 2017
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility lociTin Aung, Mineo Ozaki, Mei Chin Lee, et al.
Pageof 9

Showing results (81-90 of 89) with videos related to

Sort By:
Pageof 9
You have reached the last page of results.This site can display upto 89 results.
The Journal of Clinical Investigation|November 13, 2018
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathyMarkus Burkard, Susanne Kohl, Timm Krätzig, et al.
Nature Genetics|June 2, 2015
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsiaSusanne Kohl, Ditta Zobor, Wei-Chieh Chiang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2019
Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axisBo Gong, Houbin Zhang, Lulin Huang, et al.
Human Molecular Genetics|March 24, 2011
Common genetic variants associated with open-angle glaucomaWishal D Ramdas, Leonieke M E van Koolwijk, Hans G Lemij, et al.
HGG Advances|February 14, 2023
Whole genome sequencing for <i>USH2A</i>-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correctionJanine Reurink, Nicole Weisschuh, Alejandro Garanto, et al.
Plos Genetics|May 10, 2012
Common genetic determinants of intraocular pressure and primary open-angle glaucomaLeonieke M E van Koolwijk, Wishal D Ramdas, M Kamran Ikram, et al.
Nature Genetics|January 12, 2016
Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucomaJessica N Cooke Bailey, Stephanie J Loomis, Jae H Kang, et al.
Nature Genetics|February 24, 2015
A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndromeTin Aung, Mineo Ozaki, Takanori Mizoguchi, et al.
Nature Genetics|May 30, 2017
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility lociTin Aung, Mineo Ozaki, Mei Chin Lee, et al.
Pageof 9