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Markus N Preising

Showing results (31-40 of 47) with videos related to

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Human Mutation|October 15, 2013
Comprehensive registration of DNA sequence variants associated with inherited retinal diseases in Leiden Open Variation DatabasesFrans P M Cremers, Johan T den Dunnen, Muhammad Ajmal, et al.
Molecular Vision|July 30, 2005
Predominant rod photoreceptor degeneration in Leber congenital amaurosisJacqueline van der Spuy, Peter M G Munro, Philip J Luthert, et al.
Translational Vision Science & Technology|May 14, 2014
Optical Coherence Tomography (OCT) Device Independent Intraretinal Layer SegmentationAlexander Ehnes, Yaroslava Wenner, Christoph Friedburg, et al.
Molecular Vision|March 13, 2008
Hypoxia-regulated components of the U4/U6.U5 tri-small nuclear riboprotein complex: possible role in autosomal dominant retinitis pigmentosaRainald Schmidt-Kastner, Hideo Yamamoto, Duco Hamasaki, et al.
Ophthalmology|August 29, 2006
Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogramAgnes B Renner, Ulrich Kellner, Elke Cropp, et al.
European Journal of Human Genetics : EJHG|December 3, 2015
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in DenmarkGaluh D N Astuti, Mette Bertelsen, Markus N Preising, et al.
Investigative Ophthalmology & Visual Science|May 7, 2010
In vivo assessment of retinal vascular wall dimensionsM Dominik Fischer, Gesine Huber, Yuxi Feng, et al.
Investigative Ophthalmology & Visual Science|August 27, 2005
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier allelesJana Zernant, Maigi Külm, Sharola Dharmaraj, et al.
JAMA Ophthalmology|May 31, 2014
Expansion of ocular phenotypic features associated with mutations in ADAMTS18Aman Chandra, Gavin Arno, Kathleen Williamson, et al.
Brain Communications|March 13, 2026
<i>CACNB3</i> defects are associated with infantile idiopathic nystagmusChristoph Jüschke, Kira Linsel, Marta Owczarek-Lipska, et al.
Pageof 5

Showing results (31-40 of 47) with videos related to

Sort By:
Pageof 5
Human Mutation|October 15, 2013
Comprehensive registration of DNA sequence variants associated with inherited retinal diseases in Leiden Open Variation DatabasesFrans P M Cremers, Johan T den Dunnen, Muhammad Ajmal, et al.
Molecular Vision|July 30, 2005
Predominant rod photoreceptor degeneration in Leber congenital amaurosisJacqueline van der Spuy, Peter M G Munro, Philip J Luthert, et al.
Translational Vision Science & Technology|May 14, 2014
Optical Coherence Tomography (OCT) Device Independent Intraretinal Layer SegmentationAlexander Ehnes, Yaroslava Wenner, Christoph Friedburg, et al.
Molecular Vision|March 13, 2008
Hypoxia-regulated components of the U4/U6.U5 tri-small nuclear riboprotein complex: possible role in autosomal dominant retinitis pigmentosaRainald Schmidt-Kastner, Hideo Yamamoto, Duco Hamasaki, et al.
Ophthalmology|August 29, 2006
Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogramAgnes B Renner, Ulrich Kellner, Elke Cropp, et al.
European Journal of Human Genetics : EJHG|December 3, 2015
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in DenmarkGaluh D N Astuti, Mette Bertelsen, Markus N Preising, et al.
Investigative Ophthalmology & Visual Science|May 7, 2010
In vivo assessment of retinal vascular wall dimensionsM Dominik Fischer, Gesine Huber, Yuxi Feng, et al.
Investigative Ophthalmology & Visual Science|August 27, 2005
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier allelesJana Zernant, Maigi Külm, Sharola Dharmaraj, et al.
JAMA Ophthalmology|May 31, 2014
Expansion of ocular phenotypic features associated with mutations in ADAMTS18Aman Chandra, Gavin Arno, Kathleen Williamson, et al.
Brain Communications|March 13, 2026
<i>CACNB3</i> defects are associated with infantile idiopathic nystagmusChristoph Jüschke, Kira Linsel, Marta Owczarek-Lipska, et al.
Pageof 5