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Rob W J Collin

Showing results (101-110 of 149) with videos related to

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Molecular Vision|May 11, 2010
Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsiaMaleeha Azam, Rob W J Collin, Syed Tahir Abbas Shah, et al.
Molecular Vision|April 6, 2013
Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndromeMuhammad Ajmal, Muhammad Imran Khan, Kornelia Neveling, et al.
Ophthalmology|October 3, 2013
Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosaAnna M Siemiatkowska, L Ingeborgh van den Born, P Martin van Hagen, et al.
Molecular Vision|December 5, 2009
A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosaMaleeha Azam, Muhammad Imran Khan, Andreas Gal, et al.
Investigative Ophthalmology & Visual Science|April 9, 2010
Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli populationDikla Bandah-Rozenfeld, Karin W Littink, Tamar Ben-Yosef, et al.
Molecular Genetics & Genomic Medicine|January 29, 2015
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophyGaluh D N Astuti, Vincent Sun, Miriam Bauwens, et al.
American Journal of Human Genetics|March 10, 2009
Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosaHui Wang, Anneke I den Hollander, Yalda Moayedi, et al.
Investigative Ophthalmology & Visual Science|November 18, 2015
A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis PigmentosaKristof Van Schil, B Jeroen Klevering, Bart P Leroy, et al.
Ophthalmology|January 19, 2010
Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophyAlberta A H J Thiadens, Susanne Roosing, Rob W J Collin, et al.
Acta Ophthalmologica|November 12, 2014
Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular featuresRamon A C van Huet, Anna M Siemiatkowska, Riza K Özgül, et al.
Pageof 15

Showing results (101-110 of 149) with videos related to

Sort By:
Pageof 15
Molecular Vision|May 11, 2010
Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsiaMaleeha Azam, Rob W J Collin, Syed Tahir Abbas Shah, et al.
Molecular Vision|April 6, 2013
Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndromeMuhammad Ajmal, Muhammad Imran Khan, Kornelia Neveling, et al.
Ophthalmology|October 3, 2013
Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosaAnna M Siemiatkowska, L Ingeborgh van den Born, P Martin van Hagen, et al.
Molecular Vision|December 5, 2009
A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosaMaleeha Azam, Muhammad Imran Khan, Andreas Gal, et al.
Investigative Ophthalmology & Visual Science|April 9, 2010
Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli populationDikla Bandah-Rozenfeld, Karin W Littink, Tamar Ben-Yosef, et al.
Molecular Genetics & Genomic Medicine|January 29, 2015
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophyGaluh D N Astuti, Vincent Sun, Miriam Bauwens, et al.
American Journal of Human Genetics|March 10, 2009
Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosaHui Wang, Anneke I den Hollander, Yalda Moayedi, et al.
Investigative Ophthalmology & Visual Science|November 18, 2015
A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis PigmentosaKristof Van Schil, B Jeroen Klevering, Bart P Leroy, et al.
Ophthalmology|January 19, 2010
Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophyAlberta A H J Thiadens, Susanne Roosing, Rob W J Collin, et al.
Acta Ophthalmologica|November 12, 2014
Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular featuresRamon A C van Huet, Anna M Siemiatkowska, Riza K Özgül, et al.
Pageof 15