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Rob W J Collin

Showing results (61-70 of 149) with videos related to

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American Journal of Human Genetics|March 13, 2018
Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt DiseaseSilvia Albert, Alejandro Garanto, Riccardo Sangermano, et al.
International Journal of Molecular Sciences|April 1, 2020
In or Out? New Insights on Exon Recognition through Splice-Site InterdependencyMubeen Khan, Stéphanie S Cornelis, Riccardo Sangermano, et al.
Investigative Ophthalmology & Visual Science|February 26, 2020
Modeling ZNF408-Associated FEVR in Zebrafish Results in Abnormal Retinal VasculatureDyah W Karjosukarso, Zaheer Ali, Theo A Peters, et al.
American Journal of Ophthalmology|July 27, 2025
The Visual Acuity Course in Stargardt DiseaseJeroen A A H Pas, Dyon Valkenburg, Catherina H Z Li, et al.
Molecular Vision|December 24, 2010
Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosaMuhammad Imran Khan, Rob W J Collin, Kentar Arimadyo, 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|April 28, 2025
Progression of Atrophy as a Function of ABCA4 Variants and Age of Onset in Stargardt DiseaseJeroen A A H Pas, Catherina H Z Li, Filip Van den Broeck, et al.
Molecular Therapy. Nucleic Acids|March 13, 2023
Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant <i>ABCA4</i> c.5461-10T>CMelita Kaltak, Petra de Bruijn, Davide Piccolo, et al.
Audiology & Neuro-Otology|January 22, 2011
Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1Anne-Martine R de Heer, Rob W J Collin, Patrick L M Huygen, et al.
Investigative Ophthalmology & Visual Science|June 22, 2013
Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 geneRamon A C van Huet, Alejandro Estrada-Cuzcano, Eyal Banin, et al.
Pageof 15

Showing results (61-70 of 149) with videos related to

Sort By:
Pageof 15
American Journal of Human Genetics|March 13, 2018
Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt DiseaseSilvia Albert, Alejandro Garanto, Riccardo Sangermano, et al.
International Journal of Molecular Sciences|April 1, 2020
In or Out? New Insights on Exon Recognition through Splice-Site InterdependencyMubeen Khan, Stéphanie S Cornelis, Riccardo Sangermano, et al.
Investigative Ophthalmology & Visual Science|February 26, 2020
Modeling ZNF408-Associated FEVR in Zebrafish Results in Abnormal Retinal VasculatureDyah W Karjosukarso, Zaheer Ali, Theo A Peters, et al.
American Journal of Ophthalmology|July 27, 2025
The Visual Acuity Course in Stargardt DiseaseJeroen A A H Pas, Dyon Valkenburg, Catherina H Z Li, et al.
Molecular Vision|December 24, 2010
Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosaMuhammad Imran Khan, Rob W J Collin, Kentar Arimadyo, 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|April 28, 2025
Progression of Atrophy as a Function of ABCA4 Variants and Age of Onset in Stargardt DiseaseJeroen A A H Pas, Catherina H Z Li, Filip Van den Broeck, et al.
Molecular Therapy. Nucleic Acids|March 13, 2023
Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant <i>ABCA4</i> c.5461-10T>CMelita Kaltak, Petra de Bruijn, Davide Piccolo, et al.
Audiology & Neuro-Otology|January 22, 2011
Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1Anne-Martine R de Heer, Rob W J Collin, Patrick L M Huygen, et al.
Investigative Ophthalmology & Visual Science|June 22, 2013
Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 geneRamon A C van Huet, Alejandro Estrada-Cuzcano, Eyal Banin, et al.
Pageof 15