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Rob W J Collin

Showing results (91-100 of 149) with videos related to

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Journal of Medical Genetics|April 17, 2014
A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular colobomaMuhammad Ajmal, Muhammad Imran Khan, Kornelia Neveling, et al.
Investigative Ophthalmology & Visual Science|November 15, 2016
Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis PigmentosaGaluh D N Astuti, Gavin Arno, Sarah Hull, et al.
Investigative Ophthalmology & Visual Science|May 11, 2019
Extending the Spectrum of EYS-Associated Retinal Disease to Macular DystrophyLaurence H M Pierrache, Muriël Messchaert, Alberta A H J Thiadens, et al.
European Journal of Human Genetics : EJHG|June 26, 2008
Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancerRob W J Collin, Anne-Martine R de Heer, Jaap Oostrik, et al.
Human Mutation|January 30, 2008
Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA bindingRob W J Collin, Ramesh Chellappa, Robert-Jan Pauw, et al.
Communications Medicine|January 21, 2025
Preclinical assessment of splicing modulation therapy for ABCA4 variant c.768G>T in Stargardt diseaseDyah W Karjosukarso, Femke Bukkems, Lonneke Duijkers, et al.
JAMA Ophthalmology|May 17, 2014
Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1Anna M Siemiatkowska, Janneke H M Schuurs-Hoeijmakers, Danielle G M Bosch, et al.
American Journal of Human Genetics|November 4, 2008
Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosaRob W J Collin, Karin W Littink, B Jeroen Klevering, et al.
Molecular Vision|May 23, 2015
The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practiceRamon A C van Huet, Laurence H M Pierrache, Magda A Meester-Smoor, et al.
Ophthalmology|June 12, 2010
Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotypeKarin W Littink, L Ingeborgh van den Born, Robert K Koenekoop, et al.
Pageof 15

Showing results (91-100 of 149) with videos related to

Sort By:
Pageof 15
Journal of Medical Genetics|April 17, 2014
A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular colobomaMuhammad Ajmal, Muhammad Imran Khan, Kornelia Neveling, et al.
Investigative Ophthalmology & Visual Science|November 15, 2016
Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis PigmentosaGaluh D N Astuti, Gavin Arno, Sarah Hull, et al.
Investigative Ophthalmology & Visual Science|May 11, 2019
Extending the Spectrum of EYS-Associated Retinal Disease to Macular DystrophyLaurence H M Pierrache, Muriël Messchaert, Alberta A H J Thiadens, et al.
European Journal of Human Genetics : EJHG|June 26, 2008
Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancerRob W J Collin, Anne-Martine R de Heer, Jaap Oostrik, et al.
Human Mutation|January 30, 2008
Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA bindingRob W J Collin, Ramesh Chellappa, Robert-Jan Pauw, et al.
Communications Medicine|January 21, 2025
Preclinical assessment of splicing modulation therapy for ABCA4 variant c.768G>T in Stargardt diseaseDyah W Karjosukarso, Femke Bukkems, Lonneke Duijkers, et al.
JAMA Ophthalmology|May 17, 2014
Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1Anna M Siemiatkowska, Janneke H M Schuurs-Hoeijmakers, Danielle G M Bosch, et al.
American Journal of Human Genetics|November 4, 2008
Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosaRob W J Collin, Karin W Littink, B Jeroen Klevering, et al.
Molecular Vision|May 23, 2015
The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practiceRamon A C van Huet, Laurence H M Pierrache, Magda A Meester-Smoor, et al.
Ophthalmology|June 12, 2010
Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotypeKarin W Littink, L Ingeborgh van den Born, Robert K Koenekoop, et al.
Pageof 15