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P M Cremers

Showing results (31-40 of 307) with videos related to

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Cells|December 23, 2022
Correction of the Splicing Defect Caused by a Recurrent Variant in ABCA4 (c.769-784C>T) That Underlies Stargardt DiseaseTomasz Z Tomkiewicz, Sara E Nieuwenhuis, Frans P M Cremers, et al.
Human Mutation|May 4, 2021
Benchmarking deep learning splice prediction tools using functional splice assaysTabea V Riepe, Mubeen Khan, Susanne Roosing, et al.
Molecular Vision|March 12, 2005
Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindnessChristina Zeitz, Roberta Minotti, Silke Feil, et al.
Plos One|December 22, 2018
Molecular and clinical analysis of 27 German patients with Leber congenital amaurosisNicole Weisschuh, Britta Feldhaus, Muhammad Imran Khan, et al.
Molecular Vision|March 2, 2019
Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian familiesNaeimeh Tayebi, Oyediran Akinrinade, Muhammad Imran Khan, et al.
Journal of Medical Genetics|January 10, 2014
Prenylation defects in inherited retinal diseasesSusanne Roosing, Rob W J Collin, Anneke I den Hollander, et al.
Ophthalmology|March 17, 2004
Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosaB Jeroen Klevering, Alessandra Maugeri, Anja Wagner, et al.
Investigative Ophthalmology & Visual Science|August 27, 2003
Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 geneSioe Lie Go, Alessandra Maugeri, Jef J S Mulder, et al.
Molecular Vision|May 2, 2003
Genetic heterogeneity of butterfly-shaped pigment dystrophy of the foveaJanneke J C van Lith-Verhoeven, Frans P M Cremers, Bellinda van den Helm, et al.
American Journal of Ophthalmology|November 18, 2019
CEP290 Mutation Spectrum and Delineation of the Associated Phenotype in a Large German Cohort: A Monocentric StudyBritta Feldhaus, Nicole Weisschuh, Fadi Nasser, et al.
Pageof 31

Showing results (31-40 of 307) with videos related to

Sort By:
Pageof 31
Cells|December 23, 2022
Correction of the Splicing Defect Caused by a Recurrent Variant in ABCA4 (c.769-784C>T) That Underlies Stargardt DiseaseTomasz Z Tomkiewicz, Sara E Nieuwenhuis, Frans P M Cremers, et al.
Human Mutation|May 4, 2021
Benchmarking deep learning splice prediction tools using functional splice assaysTabea V Riepe, Mubeen Khan, Susanne Roosing, et al.
Molecular Vision|March 12, 2005
Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindnessChristina Zeitz, Roberta Minotti, Silke Feil, et al.
Plos One|December 22, 2018
Molecular and clinical analysis of 27 German patients with Leber congenital amaurosisNicole Weisschuh, Britta Feldhaus, Muhammad Imran Khan, et al.
Molecular Vision|March 2, 2019
Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian familiesNaeimeh Tayebi, Oyediran Akinrinade, Muhammad Imran Khan, et al.
Journal of Medical Genetics|January 10, 2014
Prenylation defects in inherited retinal diseasesSusanne Roosing, Rob W J Collin, Anneke I den Hollander, et al.
Ophthalmology|March 17, 2004
Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosaB Jeroen Klevering, Alessandra Maugeri, Anja Wagner, et al.
Investigative Ophthalmology & Visual Science|August 27, 2003
Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 geneSioe Lie Go, Alessandra Maugeri, Jef J S Mulder, et al.
Molecular Vision|May 2, 2003
Genetic heterogeneity of butterfly-shaped pigment dystrophy of the foveaJanneke J C van Lith-Verhoeven, Frans P M Cremers, Bellinda van den Helm, et al.
American Journal of Ophthalmology|November 18, 2019
CEP290 Mutation Spectrum and Delineation of the Associated Phenotype in a Large German Cohort: A Monocentric StudyBritta Feldhaus, Nicole Weisschuh, Fadi Nasser, et al.
Pageof 31