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Erwin van Wijk

Showing results (61-70 of 82) with videos related to

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American Journal of Human Genetics|October 6, 2009
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilinKarlien L M Coene, Ronald Roepman, Dan Doherty, et al.
International Journal of Molecular Sciences|July 2, 2021
Molecular Inversion Probe-Based Sequencing of <i>USH2A</i> Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP CasesJanine Reurink, Adrian Dockery, Dominika Oziębło, et al.
ACS Chemical Biology|August 27, 2013
Interfering with UDP-GlcNAc metabolism and heparan sulfate expression using a sugar analogue reduces angiogenesisXander M van Wijk, Victor L Thijssen, Roger Lawrence, et al.
Plos Genetics|October 21, 2015
NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in ZebrafishMargo Dona, Ruxandra Bachmann-Gagescu, Yves Texier, et al.
Ophthalmology|March 2, 2016
Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis PigmentosaLaurence H M Pierrache, Bas P Hartel, Erwin van Wijk, et al.
Journal of Inherited Metabolic Disease|July 17, 2023
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspectiveTessa M A Peters, Udo F H Engelke, Siebolt de Boer, et al.
Journal of Medical Genetics|April 27, 2017
Missense mutations in the WD40 domain of <i>AHI1</i> cause non-syndromic retinitis pigmentosaThanh-Minh T Nguyen, Sarah Hull, Ronald Roepman, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|April 25, 2021
Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutationsKalyan Dulla, Ralph Slijkerman, Hester C van Diepen, et al.
Plos Genetics|December 17, 2013
Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomainSebiha Cevik, Anna A W M Sanders, Erwin Van Wijk, et al.
NPJ Genomic Medicine|June 7, 2022
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variantJanine Reurink, Erik de Vrieze, Catherina H Z Li, et al.
Pageof 9

Showing results (61-70 of 82) with videos related to

Sort By:
Pageof 9
American Journal of Human Genetics|October 6, 2009
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilinKarlien L M Coene, Ronald Roepman, Dan Doherty, et al.
International Journal of Molecular Sciences|July 2, 2021
Molecular Inversion Probe-Based Sequencing of <i>USH2A</i> Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP CasesJanine Reurink, Adrian Dockery, Dominika Oziębło, et al.
ACS Chemical Biology|August 27, 2013
Interfering with UDP-GlcNAc metabolism and heparan sulfate expression using a sugar analogue reduces angiogenesisXander M van Wijk, Victor L Thijssen, Roger Lawrence, et al.
Plos Genetics|October 21, 2015
NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in ZebrafishMargo Dona, Ruxandra Bachmann-Gagescu, Yves Texier, et al.
Ophthalmology|March 2, 2016
Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis PigmentosaLaurence H M Pierrache, Bas P Hartel, Erwin van Wijk, et al.
Journal of Inherited Metabolic Disease|July 17, 2023
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspectiveTessa M A Peters, Udo F H Engelke, Siebolt de Boer, et al.
Journal of Medical Genetics|April 27, 2017
Missense mutations in the WD40 domain of <i>AHI1</i> cause non-syndromic retinitis pigmentosaThanh-Minh T Nguyen, Sarah Hull, Ronald Roepman, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|April 25, 2021
Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutationsKalyan Dulla, Ralph Slijkerman, Hester C van Diepen, et al.
Plos Genetics|December 17, 2013
Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomainSebiha Cevik, Anna A W M Sanders, Erwin Van Wijk, et al.
NPJ Genomic Medicine|June 7, 2022
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variantJanine Reurink, Erik de Vrieze, Catherina H Z Li, et al.
Pageof 9