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Rob W J Collin

Showing results (111-120 of 149) with videos related to

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Cells|November 26, 2022
The Predicted Splicing Variant c.11+5G>A in <i>RPE65</i> Leads to a Reduction in mRNA Expression in a Cell-Specific MannerIrene Vázquez-Domínguez, Lonneke Duijkers, Zeinab Fadaie, et al.
Molecular Vision|December 1, 2011
Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mappingAnna M Siemiatkowska, Kentar Arimadyo, Luminita M Moruz, et al.
Molecular Therapy. Nucleic Acids|November 4, 2024
Lipopeptide-mediated Cas9 RNP delivery: A promising broad therapeutic strategy for safely removing deep-intronic variants in <i>ABCA4</i>Irene Vázquez-Domínguez, Mert Öktem, Florian A Winkelaar, et al.
Ophthalmology|March 16, 2016
Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt DiseaseRiccardo Sangermano, Nathalie M Bax, Miriam Bauwens, et al.
Molecular Therapy. Nucleic Acids|August 17, 2018
Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 ModelsKalyan Dulla, Monica Aguila, Amelia Lane, et al.
Investigative Ophthalmology & Visual Science|May 31, 2014
IMPG2-associated retinitis pigmentosa displays relatively early macular involvementRamon A C van Huet, Rob W J Collin, Anna M Siemiatkowska, et al.
Investigative Ophthalmology & Visual Science|December 17, 2008
A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorderKarin W Littink, Maria M van Genderen, Rob W J Collin, et al.
Human Mutation|March 22, 2007
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairmentRob W J Collin, Ersan Kalay, Jaap Oostrik, et al.
Molecular Vision|June 19, 2014
Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosisAnna M Siemiatkowska, L Ingeborgh van den Born, Maria M van Genderen, et al.
Human Mutation|August 19, 2021
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal diseaseManon H C A Peeters, Mubeen Khan, Anoek A M B Rooijakkers, et al.
Pageof 15

Showing results (111-120 of 149) with videos related to

Sort By:
Pageof 15
Cells|November 26, 2022
The Predicted Splicing Variant c.11+5G>A in <i>RPE65</i> Leads to a Reduction in mRNA Expression in a Cell-Specific MannerIrene Vázquez-Domínguez, Lonneke Duijkers, Zeinab Fadaie, et al.
Molecular Vision|December 1, 2011
Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mappingAnna M Siemiatkowska, Kentar Arimadyo, Luminita M Moruz, et al.
Molecular Therapy. Nucleic Acids|November 4, 2024
Lipopeptide-mediated Cas9 RNP delivery: A promising broad therapeutic strategy for safely removing deep-intronic variants in <i>ABCA4</i>Irene Vázquez-Domínguez, Mert Öktem, Florian A Winkelaar, et al.
Ophthalmology|March 16, 2016
Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt DiseaseRiccardo Sangermano, Nathalie M Bax, Miriam Bauwens, et al.
Molecular Therapy. Nucleic Acids|August 17, 2018
Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 ModelsKalyan Dulla, Monica Aguila, Amelia Lane, et al.
Investigative Ophthalmology & Visual Science|May 31, 2014
IMPG2-associated retinitis pigmentosa displays relatively early macular involvementRamon A C van Huet, Rob W J Collin, Anna M Siemiatkowska, et al.
Investigative Ophthalmology & Visual Science|December 17, 2008
A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorderKarin W Littink, Maria M van Genderen, Rob W J Collin, et al.
Human Mutation|March 22, 2007
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairmentRob W J Collin, Ersan Kalay, Jaap Oostrik, et al.
Molecular Vision|June 19, 2014
Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosisAnna M Siemiatkowska, L Ingeborgh van den Born, Maria M van Genderen, et al.
Human Mutation|August 19, 2021
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal diseaseManon H C A Peeters, Mubeen Khan, Anoek A M B Rooijakkers, et al.
Pageof 15