Hasil Pencarian - Erwin Van Wijk

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  1. 1
    Generation and Characterization of a Zebrafish Model for <i>ADGRV1-</i>Associated Retinal Dysfunction Using CRISPR/Cas9 Genome Editing Technology

    Generation and Characterization of a Zebrafish Model for <i>ADGRV1-</i>Associated Retinal Dysfunction Using CRISPR/Cas9 Genome Editing Technology oleh Merel Stemerdink, Sanne Broekman, Theo Peters, Hannie Kremer, Erik de Vrieze, Erwin van Wijk

    Diterbitkan 2023-06-01
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  2. 2
    Efficient Generation of Knock-In Zebrafish Models for Inherited Disorders Using CRISPR-Cas9 Ribonucleoprotein Complexes

    Efficient Generation of Knock-In Zebrafish Models for Inherited Disorders Using CRISPR-Cas9 Ribonucleoprotein Complexes oleh Erik de Vrieze, Suzanne E. de Bruijn, Janine Reurink, Sanne Broekman, Vince van de Riet, Marco Aben, Hannie Kremer, Erwin van Wijk

    Diterbitkan 2021-08-01
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  3. 3
    A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping for USH2A-associated retinitis pigmentosa

    A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping for USH2A-associated retinitis pigmentosa oleh Renske T.W. Schellens, Sanne Broekman, Theo Peters, Pam Graave, Lucija Malinar, Hanka Venselaar, Hannie Kremer, Erik De Vrieze, Erwin Van Wijk

    Diterbitkan 2023-06-01
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  4. 4
    Zebrafish as a Model to Evaluate a CRISPR/Cas9-Based Exon Excision Approach as a Future Treatment Option for <i>EYS</i>-Associated Retinitis Pigmentosa

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

    Diterbitkan 2021-08-01
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  5. 5
    Eyes shut homolog is important for the maintenance of photoreceptor morphology and visual function in zebrafish.

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

    Diterbitkan 2018-01-01
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  6. 6
    AON-based degradation of c.151C>T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9

    AON-based degradation of c.151C>T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9 oleh Erik de Vrieze, Jorge Cañas Martín, Jolien Peijnenborg, Aniek Martens, Jaap Oostrik, Simone van den Heuvel, Kornelia Neveling, Ronald Pennings, Hannie Kremer, Erwin van Wijk

    Diterbitkan 2021-06-01
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  7. 7
    Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in <i>USH2A</i>

    Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in <i>USH2A</i> oleh Janine Reurink, Jaap Oostrik, Marco Aben, Mariana Guimarães Ramos, Emma van Berkel, Monika Ołdak, Erwin van Wijk, Hannie Kremer, Susanne Roosing, Frans P. M. Cremers

    Diterbitkan 2022-11-01
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  8. 8
    USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids

    USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids oleh Carla Sanjurjo-Soriano, Carla Jimenez-Medina, Nejla Erkilic, Luisina Cappellino, Arnaud Lefevre, Kerstin Nagel-Wolfrum, Uwe Wolfrum, Erwin Van Wijk, Anne-Françoise Roux, Isabelle Meunier, Vasiliki Kalatzis

    Diterbitkan 2023-10-01
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  9. 9
    Genotype-Phenotype Correlations of Pathogenic <i>COCH</i> Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis

    Genotype-Phenotype Correlations of Pathogenic <i>COCH</i> Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis oleh Sybren M. M. Robijn, Jeroen J. Smits, Kadriye Sezer, Patrick L. M. Huygen, Andy J. Beynon, Erwin van Wijk, Hannie Kremer, Erik de Vrieze, Cornelis P. Lanting, Ronald J. E. Pennings

    Diterbitkan 2022-01-01
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  10. 10
    Pathogenic Variants in the COCH Gene That Lead to Hearing Loss and Vestibular Deficit: Update on DFNA9 and Introducing DFNB110

    Pathogenic Variants in the COCH Gene That Lead to Hearing Loss and Vestibular Deficit: Update on DFNA9 and Introducing DFNB110 oleh Vincent Van Rompaey, Hanne Gommeren, Joyce Bosmans, Dorien Verdoodt, Sebastien JanssensdeVarebeke, Erik de Vrieze, Ronald Pennings, Raymond Van de Berg, Marc Lammers, Olivier Vanderveken, Erik Fransen, Guy Van Camp, Erwin Van Wijk

    Diterbitkan 2022-10-01
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  11. 11
    Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

    Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation oleh Radulfus WN Slijkerman, Christel Vaché, Margo Dona, Gema García-García, Mireille Claustres, Lisette Hetterschijt, Theo A Peters, Bas P Hartel, Ronald JE Pennings, José M Millan, Elena Aller, Alejandro Garanto, Rob WJ Collin, Hannie Kremer, Anne-Françoise Roux, Erwin Van Wijk

    Diterbitkan 2016-01-01
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  12. 12
    CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.

    CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia. oleh Francisco J Arjona, Jeroen H F de Baaij, Karl P Schlingmann, Anke L L Lameris, Erwin van Wijk, Gert Flik, Sabrina Regele, G Christoph Korenke, Birgit Neophytou, Stephan Rust, Nadine Reintjes, Martin Konrad, René J M Bindels, Joost G J Hoenderop

    Diterbitkan 2014-04-01
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  13. 13
    Loss of Gap Junction Delta-2 (GJD2) gene orthologs leads to refractive error in zebrafish

    Loss of Gap Junction Delta-2 (GJD2) gene orthologs leads to refractive error in zebrafish oleh Wim H. Quint, Kirke C. D. Tadema, Erik de Vrieze, Rachel M. Lukowicz, Sanne Broekman, Beerend H. J. Winkelman, Melanie Hoevenaars, H. Martijn de Gruiter, Erwin van Wijk, Frank Schaeffel, Magda Meester-Smoor, Adam C. Miller, Rob Willemsen, Caroline C. W. Klaver, Adriana I. Iglesias

    Diterbitkan 2021-06-01
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  14. 14
    The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.

    The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking. oleh Ruxandra Bachmann-Gagescu, Margo Dona, Lisette Hetterschijt, Edith Tonnaer, Theo Peters, Erik de Vrieze, Dorus A Mans, Sylvia E C van Beersum, Ian G Phelps, Heleen H Arts, Jan E Keunen, Marius Ueffing, Ronald Roepman, Karsten Boldt, Dan Doherty, Cecilia B Moens, Stephan C F Neuhauss, Hannie Kremer, Erwin van Wijk

    Diterbitkan 2015-10-01
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  15. 15
    Molecular Inversion Probe-Based Sequencing of <i>USH2A</i> Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases

    Molecular Inversion Probe-Based Sequencing of <i>USH2A</i> Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases oleh Janine Reurink, Adrian Dockery, Dominika Oziębło, G. Jane Farrar, Monika Ołdak, Jacoline B. ten Brink, Arthur A. Bergen, Tuula Rinne, Helger G. Yntema, Ronald J. E. Pennings, L. Ingeborgh van den Born, Marco Aben, Jaap Oostrik, Hanka Venselaar, Astrid S. Plomp, M. Imran Khan, Erwin van Wijk, Frans P. M. Cremers, Susanne Roosing, Hannie Kremer

    Diterbitkan 2021-06-01
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  16. 16
    NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish.

    NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish. oleh Margo Dona, Ruxandra Bachmann-Gagescu, Yves Texier, Grischa Toedt, Lisette Hetterschijt, Edith L Tonnaer, Theo A Peters, Sylvia E C van Beersum, Judith G M Bergboer, Nicola Horn, Erik de Vrieze, Ralph W N Slijkerman, Jeroen van Reeuwijk, Gert Flik, Jan E Keunen, Marius Ueffing, Toby J Gibson, Ronald Roepman, Karsten Boldt, Hannie Kremer, Erwin van Wijk

    Diterbitkan 2015-10-01
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  17. 17
    Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain.

    Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain. oleh Sebiha Cevik, Anna A W M Sanders, Erwin Van Wijk, Karsten Boldt, Lara Clarke, Jeroen van Reeuwijk, Yuji Hori, Nicola Horn, Lisette Hetterschijt, Anita Wdowicz, Andrea Mullins, Katarzyna Kida, Oktay I Kaplan, Sylvia E C van Beersum, Ka Man Wu, Stef J F Letteboer, Dorus A Mans, Toshiaki Katada, Kenji Kontani, Marius Ueffing, Ronald Roepman, Hannie Kremer, Oliver E Blacque

    Diterbitkan 2013-01-01
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  18. 18
    Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant

    Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant oleh Janine Reurink, Erik de Vrieze, Catherina H. Z. Li, Emma van Berkel, Sanne Broekman, Marco Aben, Theo Peters, Jaap Oostrik, Kornelia Neveling, Hanka Venselaar, Mariana Guimarães Ramos, Christian Gilissen, Galuh D. N. Astuti, Jordi Corominas Galbany, Janneke J. C. van Lith-Verhoeven, Charlotte W. Ockeloen, Lonneke Haer-Wigman, Carel B. Hoyng, Frans P. M. Cremers, Hannie Kremer, Susanne Roosing, Erwin van Wijk

    Diterbitkan 2022-06-01
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  19. 19
    Evaluation of Sleep Quality and Fatigue in Patients with Usher Syndrome Type 2a

    Evaluation of Sleep Quality and Fatigue in Patients with Usher Syndrome Type 2a oleh Jessie M. Hendricks, MSc, Juriaan R. Metz, PhD, Hedwig M. Velde, MSc, Jack Weeda, BSc, Franca Hartgers, PhD, Suzanne Yzer, MD, PhD, Carel B. Hoyng, MD, PhD, Ronald J.E. Pennings, MD, PhD, Rob W.J. Collin, PhD, Myrthe H.M. Boss, MD, PhD, Erik de Vrieze, PhD, Erwin van Wijk, PhD

    Diterbitkan 2023-12-01
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  20. 20
    A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

    A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy oleh Celia Zazo Seco, Anna Castells-Nobau, Seol-hee Joo, Margit Schraders, Jia Nee Foo, Monique van der Voet, S. Sendhil Velan, Bonnie Nijhof, Jaap Oostrik, Erik de Vrieze, Radoslaw Katana, Atika Mansoor, Martijn Huynen, Radek Szklarczyk, Martin Oti, Lisbeth Tranebjærg, Erwin van Wijk, Jolanda M. Scheffer-de Gooyert, Saadat Siddique, Jonathan Baets, Peter de Jonghe, Syed Ali Raza Kazmi, Suresh Anand Sadananthan, Bart P. van de Warrenburg, Chiea Chuen Khor, Martin C. Göpfert, Raheel Qamar, Annette Schenck, Hannie Kremer, Saima Siddiqi

    Diterbitkan 2017-02-01
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