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Ronald Roepman

Showing results (81-90 of 122) with videos related to

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Cilia|April 13, 2016
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndromeMachteld M Oud, Carine Bonnard, Dorus A Mans, 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|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.
Biorxiv : the Preprint Server for Biology|November 21, 2023
DLG1 functions upstream of SDCCAG3 and IFT20 to control ciliary targeting of polycystin-2Csenge K Rezi, Mariam G Aslanyan, Gaurav D Diwan, et al.
EMBO Reports|June 7, 2024
DLG1 functions upstream of SDCCAG3 and IFT20 to control ciliary targeting of polycystin-2Csenge K Rezi, Mariam G Aslanyan, Gaurav D Diwan, 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.
Proceedings of the National Academy of Sciences of the United States of America|April 22, 2020
PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formationJulio C Corral-Serrano, Ideke J C Lamers, Jeroen van Reeuwijk, et al.
Plos Genetics|April 30, 2019
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunctionDov Tiosano, Hagit N Baris, Anlu Chen, 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 13

Showing results (81-90 of 122) with videos related to

Sort By:
Pageof 13
Cilia|April 13, 2016
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndromeMachteld M Oud, Carine Bonnard, Dorus A Mans, 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|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.
Biorxiv : the Preprint Server for Biology|November 21, 2023
DLG1 functions upstream of SDCCAG3 and IFT20 to control ciliary targeting of polycystin-2Csenge K Rezi, Mariam G Aslanyan, Gaurav D Diwan, et al.
EMBO Reports|June 7, 2024
DLG1 functions upstream of SDCCAG3 and IFT20 to control ciliary targeting of polycystin-2Csenge K Rezi, Mariam G Aslanyan, Gaurav D Diwan, 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.
Proceedings of the National Academy of Sciences of the United States of America|April 22, 2020
PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formationJulio C Corral-Serrano, Ideke J C Lamers, Jeroen van Reeuwijk, et al.
Plos Genetics|April 30, 2019
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunctionDov Tiosano, Hagit N Baris, Anlu Chen, 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 13