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Stef J F Letteboer

Showing results (11-20 of 32) with videos related to

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Human Molecular Genetics|October 2, 2008
Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like proteinErwin van Wijk, Ferry F J Kersten, Aileen Kartono, et al.
Cell Reports|August 15, 2019
A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog SignalingKari-Anne M Frikstad, Elisa Molinari, Marianne Thoresen, et al.
Human Molecular Genetics|June 23, 2007
MPP1 links the Usher protein network and the Crumbs protein complex in the retinaIlse Gosens, Erwin van Wijk, Ferry F J Kersten, et al.
American Journal of Human Genetics|July 15, 2014
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophySusanne Roosing, Ideke J C Lamers, Erik de Vrieze, et al.
The Journal of Clinical Investigation|May 25, 2011
Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and miceKarsten Boldt, Dorus A Mans, Jungyeon Won, et al.
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.
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.
Nature Genetics|June 15, 2007
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndromeHeleen H Arts, Dan Doherty, Sylvia E C van Beersum, et al.
American Journal of Human Genetics|November 7, 2017
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain PhenotypeIdeke J C Lamers, Margot R F Reijnders, Hanka Venselaar, 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.
Pageof 4

Showing results (11-20 of 32) with videos related to

Sort By:
Pageof 4
Human Molecular Genetics|October 2, 2008
Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like proteinErwin van Wijk, Ferry F J Kersten, Aileen Kartono, et al.
Cell Reports|August 15, 2019
A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog SignalingKari-Anne M Frikstad, Elisa Molinari, Marianne Thoresen, et al.
Human Molecular Genetics|June 23, 2007
MPP1 links the Usher protein network and the Crumbs protein complex in the retinaIlse Gosens, Erwin van Wijk, Ferry F J Kersten, et al.
American Journal of Human Genetics|July 15, 2014
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophySusanne Roosing, Ideke J C Lamers, Erik de Vrieze, et al.
The Journal of Clinical Investigation|May 25, 2011
Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and miceKarsten Boldt, Dorus A Mans, Jungyeon Won, et al.
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.
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.
Nature Genetics|June 15, 2007
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndromeHeleen H Arts, Dan Doherty, Sylvia E C van Beersum, et al.
American Journal of Human Genetics|November 7, 2017
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain PhenotypeIdeke J C Lamers, Margot R F Reijnders, Hanka Venselaar, 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.
Pageof 4