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Sten Andreasson

Showing results (21-30 of 28) with videos related to

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Investigative Ophthalmology & Visual Science|May 31, 2002
Mutated alleles of the rod and cone Na-Ca+K-exchanger genes in patients with retinal diseasesDror Sharon, Hiroyuki Yamamoto, Terri L McGee, et al.
Neurobiology of Disease|November 29, 2016
Functional validation of ABHD12 mutations in the neurodegenerative disease PHARCAngèle Tingaud-Sequeira, Demetrio Raldúa, Julie Lavie, et al.
Plos One|January 15, 2016
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation SequencingNicole Weisschuh, Anja K Mayer, Tim M Strom, et al.
European Journal of Human Genetics : EJHG|January 20, 2005
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsiaSusanne Kohl, Balazs Varsanyi, Gesine Abadin Antunes, et al.
Investigative Ophthalmology & Visual Science|November 15, 2012
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative diseaseKari Branham, Mohammad Othman, Matthew Brumm, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 27, 2022
The landscape of submicroscopic structural variants at the <i>OPN1LW/OPN1MW</i> gene cluster on Xq28 underlying blue cone monochromacyBernd Wissinger, Britta Baumann, Elena Buena-Atienza, et al.
Human Mutation|August 16, 2013
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlationsDonna S Mackay, Arundhati Dev Borman, Ruifang Sui, et al.
Human Mutation|March 25, 2022
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsiaMaria Solaki, Britta Baumann, Peggy Reuter, et al.
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Showing results (21-30 of 28) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 28 results.
Investigative Ophthalmology & Visual Science|May 31, 2002
Mutated alleles of the rod and cone Na-Ca+K-exchanger genes in patients with retinal diseasesDror Sharon, Hiroyuki Yamamoto, Terri L McGee, et al.
Neurobiology of Disease|November 29, 2016
Functional validation of ABHD12 mutations in the neurodegenerative disease PHARCAngèle Tingaud-Sequeira, Demetrio Raldúa, Julie Lavie, et al.
Plos One|January 15, 2016
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation SequencingNicole Weisschuh, Anja K Mayer, Tim M Strom, et al.
European Journal of Human Genetics : EJHG|January 20, 2005
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsiaSusanne Kohl, Balazs Varsanyi, Gesine Abadin Antunes, et al.
Investigative Ophthalmology & Visual Science|November 15, 2012
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative diseaseKari Branham, Mohammad Othman, Matthew Brumm, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 27, 2022
The landscape of submicroscopic structural variants at the <i>OPN1LW/OPN1MW</i> gene cluster on Xq28 underlying blue cone monochromacyBernd Wissinger, Britta Baumann, Elena Buena-Atienza, et al.
Human Mutation|August 16, 2013
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlationsDonna S Mackay, Arundhati Dev Borman, Ruifang Sui, et al.
Human Mutation|March 25, 2022
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsiaMaria Solaki, Britta Baumann, Peggy Reuter, et al.
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