检索结果 - Collin, Rob W J

Unraveling the mysteries of pre-mRNA splicing in the retina via stem cell technology 由 Collin, Rob W. J.

获取全文 获取全文 获取全文

Preface of Special Issue "Molecular Therapies for Inherited Retinal Diseases" 由 Collin, Rob W.J., Garanto, Alejandro

获取全文 获取全文 获取全文

Species-Dependent Splice Recognition of a Cryptic Exon Resulting from a Recurrent Intronic CEP290 Mutation that Causes Congenital Blindness 由 Garanto, Alejandro, Duijkers, Lonneke, Collin, Rob W. J.

获取全文 获取全文 获取全文

Molecular Therapies for Inherited Retinal Diseases—Current Standing, Opportunities and Challenges 由 Vázquez-Domínguez, Irene, Garanto, Alejandro, Collin, Rob W. J.

获取全文 获取全文 获取全文

Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic ABCA4 Variant c.4539+2001G>A in Stargardt Disease 由 Garanto, Alejandro, Duijkers, Lonneke, Tomkiewicz, Tomasz Z., Collin, Rob W. J.

获取全文 获取全文 获取全文

Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations 由 Cremers, Frans P.M., Lee, Winston, Collin, Rob W.J., Allikmets, Rando

获取全文 获取全文 获取全文

Correction: P-cadherin mutations are associated with high basal Wnt activity and stemness in canine mammary tumor cell lines 由 Timmermans-Sprang, Elpetra, Collin, Rob W.J., Henkes, Arjen, Philipsen, Meike, Mol, Jan A.

获取全文 获取全文 获取全文

Genomic Approaches For the Discovery of Genes Mutated in Inherited Retinal Degeneration 由 Siemiatkowska, Anna M., Collin, Rob W.J., den Hollander, Anneke I., Cremers, Frans P.M.

获取全文 获取全文 获取全文

Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly 由 Karjosukarso, Dyah W., Cremers, Frans P. M., van Nouhuys, C. Erik, Collin, Rob W. J.

获取全文 获取全文 获取全文

Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in ABCA4 由 Tomkiewicz, Tomasz Z., Suárez-Herrera, Nuria, Cremers, Frans P. M., Collin, Rob W. J., Garanto, Alejandro

获取全文 获取全文 获取全文

Variants in Nebulin (NEB) Are Linked to the Development of Familial Primary Angle Closure Glaucoma in Basset Hounds 由 Ahram, Dina F., Grozdanic, Sinisa D., Kecova, Helga, Henkes, Arjen, Collin, Rob W. J., Kuehn, Markus H.

获取全文 获取全文 获取全文

A look into retinal organoids: methods, analytical techniques, and applications 由 Afanasyeva, Tess A. V., Corral-Serrano, Julio C., Garanto, Alejandro, Roepman, Ronald, Cheetham, Michael E., Collin, Rob W. J.

获取全文 获取全文 获取全文

Unexpected CEP290 mRNA Splicing in a Humanized Knock-In Mouse Model for Leber Congenital Amaurosis 由 Garanto, Alejandro, van Beersum, Sylvia E. C., Peters, Theo A., Roepman, Ronald, Cremers, Frans P. M., Collin, Rob W. J.

获取全文 获取全文 获取全文

The Molecular Basis of Retinal Dystrophies in Pakistan 由 Khan, Muhammad Imran, Azam, Maleeha, Ajmal, Muhammad, Collin, Rob W. J., den Hollander, Anneke I., Cremers, Frans P. M., Qamar, Raheel

获取全文 获取全文 获取全文

C2orf71a/pcare1 is important for photoreceptor outer segment morphogenesis and visual function in zebrafish 由 Corral-Serrano, Julio C., Messchaert, Muriël, Dona, Margo, Peters, Theo A., Kamminga, Leonie M., van Wijk, Erwin, Collin, Rob W. J.

获取全文 获取全文 获取全文

Expression of Wild-Type Rp1 Protein in Rp1 Knock-in Mice Rescues the Retinal Degeneration Phenotype 由 Liu, Qin, Collin, Rob W. J., Cremers, Frans P. M., den Hollander, Anneke I., van den Born, L. Ingeborgh, Pierce, Eric A.

获取全文 获取全文 获取全文

Zebrafish as a Model to Evaluate a CRISPR/Cas9-Based Exon Excision Approach as a Future Treatment Option for EYS-Associated Retinitis Pigmentosa 由 Schellens, Renske, de Vrieze, Erik, Graave, Pam, Broekman, Sanne, Nagel-Wolfrum, Kerstin, Peters, Theo, Kremer, Hannie, Collin, Rob W. J., van Wijk, Erwin

获取全文 获取全文 获取全文

A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen 由 Paun, Codrut C., Pijl, Benjamin J., Siemiatkowska, Anna M., Collin, Rob W.J., Cremers, Frans P.M., Hoyng, Carel B., den Hollander, Anneke I.

获取全文 获取全文

Eyes shut homolog is important for the maintenance of photoreceptor morphology and visual function in zebrafish 由 Messchaert, Muriël, Dona, Margo, Broekman, Sanne, Peters, Theo A., Corral-Serrano, Julio C., Slijkerman, Ralph W. N., van Wijk, Erwin, Collin, Rob W. J.

获取全文 获取全文 获取全文

In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery 由 Garanto, Alejandro, Chung, Daniel C., Duijkers, Lonneke, Corral-Serrano, Julio C., Messchaert, Muriël, Xiao, Ru, Bennett, Jean, Vandenberghe, Luk H., Collin, Rob W.J.

获取全文 获取全文 获取全文