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Markus N Preising

Showing results (41-50 of 47) with videos related to

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Human Molecular Genetics|April 3, 2017
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2Stylianos Michalakis, Lior Shaltiel, Vithiyanjali Sothilingam, et al.
Human Molecular Genetics|October 29, 2013
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2Stylianos Michalakis, Lior Shaltiel, Vithiyanjali Sothilingam, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|July 27, 2019
Biallelic mutation of human <i>SLC6A6</i> encoding the taurine transporter TAUT is linked to early retinal degenerationMarkus N Preising, Boris Görg, Christoph Friedburg, 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.
Plos One|November 23, 2013
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophiesTobias Eisenberger, Christine Neuhaus, Arif O Khan, 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 3, 2019
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disordersChristina Zeitz, Christelle Michiels, Marion Neuillé, et al.
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Showing results (41-50 of 47) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 47 results.
Human Molecular Genetics|April 3, 2017
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2Stylianos Michalakis, Lior Shaltiel, Vithiyanjali Sothilingam, et al.
Human Molecular Genetics|October 29, 2013
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2Stylianos Michalakis, Lior Shaltiel, Vithiyanjali Sothilingam, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|July 27, 2019
Biallelic mutation of human <i>SLC6A6</i> encoding the taurine transporter TAUT is linked to early retinal degenerationMarkus N Preising, Boris Görg, Christoph Friedburg, 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.
Plos One|November 23, 2013
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophiesTobias Eisenberger, Christine Neuhaus, Arif O Khan, 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 3, 2019
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disordersChristina Zeitz, Christelle Michiels, Marion Neuillé, et al.
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