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Bernd Wissinger

Showing results (91-100 of 196) with videos related to

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Plos One|July 9, 2021
Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variantsNicole Weisschuh, Simone Schimpf-Linzenbold, Pascale Mazzola, et al.
American Journal of Ophthalmology|August 27, 2013
Diagnostic fundus autofluorescence patterns in achromatopsiaAbigail T Fahim, Naheed W Khan, Sarwar Zahid, et al.
Molecular Vision|April 11, 2022
Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genesSamer Khateb, Aya Shemesh, Ashly Offenheim, et al.
European Journal of Human Genetics : EJHG|January 4, 2020
Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian AuthorityAnja K Mayer, Ghassan Balousha, Rajech Sharkia, et al.
Investigative Ophthalmology & Visual Science|December 6, 2018
Blue Cone Monochromacy Caused by the C203R Missense Mutation or Large Deletion MutationsAlexander Sumaroka, Alexandra V Garafalo, Artur V Cideciyan, et al.
European Journal of Human Genetics : EJHG|July 24, 2014
Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophyRehan S Shaikh, Peggy Reuter, Robert A Sisk, et al.
Investigative Ophthalmology & Visual Science|February 5, 2017
The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy TrialDitta Zobor, Annette Werner, Franco Stanzial, et al.
Human Gene Therapy|December 8, 2017
Gene Therapy Successfully Delays Degeneration in a Mouse Model of <i>PDE6A</i>-Linked Retinitis Pigmentosa (RP43)Christian Schön, Vithiyanjali Sothilingam, Regine Mühlfriedel, et al.
European Journal of Human Genetics : EJHG|December 4, 2002
Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregateLouise M Downey, T Jeffrey Keen, Ismail K Jalili, et al.
Investigative Ophthalmology & Visual Science|February 1, 2008
Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2Bernd Wissinger, Susann Dangel, Herbert Jägle, et al.
Pageof 20

Showing results (91-100 of 196) with videos related to

Sort By:
Pageof 20
Plos One|July 9, 2021
Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variantsNicole Weisschuh, Simone Schimpf-Linzenbold, Pascale Mazzola, et al.
American Journal of Ophthalmology|August 27, 2013
Diagnostic fundus autofluorescence patterns in achromatopsiaAbigail T Fahim, Naheed W Khan, Sarwar Zahid, et al.
Molecular Vision|April 11, 2022
Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genesSamer Khateb, Aya Shemesh, Ashly Offenheim, et al.
European Journal of Human Genetics : EJHG|January 4, 2020
Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian AuthorityAnja K Mayer, Ghassan Balousha, Rajech Sharkia, et al.
Investigative Ophthalmology & Visual Science|December 6, 2018
Blue Cone Monochromacy Caused by the C203R Missense Mutation or Large Deletion MutationsAlexander Sumaroka, Alexandra V Garafalo, Artur V Cideciyan, et al.
European Journal of Human Genetics : EJHG|July 24, 2014
Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophyRehan S Shaikh, Peggy Reuter, Robert A Sisk, et al.
Investigative Ophthalmology & Visual Science|February 5, 2017
The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy TrialDitta Zobor, Annette Werner, Franco Stanzial, et al.
Human Gene Therapy|December 8, 2017
Gene Therapy Successfully Delays Degeneration in a Mouse Model of <i>PDE6A</i>-Linked Retinitis Pigmentosa (RP43)Christian Schön, Vithiyanjali Sothilingam, Regine Mühlfriedel, et al.
European Journal of Human Genetics : EJHG|December 4, 2002
Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregateLouise M Downey, T Jeffrey Keen, Ismail K Jalili, et al.
Investigative Ophthalmology & Visual Science|February 1, 2008
Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2Bernd Wissinger, Susann Dangel, Herbert Jägle, et al.
Pageof 20