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Ronald Roepman

Showing results (101-110 of 122) with videos related to

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Nature Genetics|December 23, 2015
Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrityNicole T M Saksens, Mark P Krebs, Frederieke E Schoenmaker-Koller, et al.
The Journal of Clinical Investigation|May 27, 2020
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndromeBrooke L Latour, Julie C Van De Weghe, Tamara Ds Rusterholz, et al.
Pediatric Nephrology (Berlin, Germany)|July 6, 2018
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathyMarijn F Stokman, Bert van der Zwaag, Nicole C A J van de Kar, et al.
Genome Biology|December 31, 2015
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndromeAnna A W M Sanders, Erik de Vrieze, Anas M Alazami, et al.
American Journal of Human Genetics|December 7, 2015
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin SyndromeLindsay C Burrage, Wu-Lin Charng, Mohammad K Eldomery, et al.
Nature Genetics|June 5, 2007
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosisAnneke I den Hollander, Robert K Koenekoop, Moin D Mohamed, et al.
American Journal of Human Genetics|September 6, 2014
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formationRim Hjeij, Alexandros Onoufriadis, Christopher M Watson, et al.
American Journal of Human Genetics|January 31, 2017
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia SyndromeMachteld M Oud, Paul Tuijnenburg, Maja Hempel, et al.
Journal of Medical Genetics|March 5, 2013
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvementMiriam Schmidts, Heleen H Arts, Ernie M H F Bongers, et al.
American Journal of Human Genetics|October 28, 2008
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290Nicholas T Gorden, Heleen H Arts, Melissa A Parisi, et al.
Pageof 13

Showing results (101-110 of 122) with videos related to

Sort By:
Pageof 13
Nature Genetics|December 23, 2015
Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrityNicole T M Saksens, Mark P Krebs, Frederieke E Schoenmaker-Koller, et al.
The Journal of Clinical Investigation|May 27, 2020
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndromeBrooke L Latour, Julie C Van De Weghe, Tamara Ds Rusterholz, et al.
Pediatric Nephrology (Berlin, Germany)|July 6, 2018
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathyMarijn F Stokman, Bert van der Zwaag, Nicole C A J van de Kar, et al.
Genome Biology|December 31, 2015
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndromeAnna A W M Sanders, Erik de Vrieze, Anas M Alazami, et al.
American Journal of Human Genetics|December 7, 2015
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin SyndromeLindsay C Burrage, Wu-Lin Charng, Mohammad K Eldomery, et al.
Nature Genetics|June 5, 2007
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosisAnneke I den Hollander, Robert K Koenekoop, Moin D Mohamed, et al.
American Journal of Human Genetics|September 6, 2014
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formationRim Hjeij, Alexandros Onoufriadis, Christopher M Watson, et al.
American Journal of Human Genetics|January 31, 2017
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia SyndromeMachteld M Oud, Paul Tuijnenburg, Maja Hempel, et al.
Journal of Medical Genetics|March 5, 2013
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvementMiriam Schmidts, Heleen H Arts, Ernie M H F Bongers, et al.
American Journal of Human Genetics|October 28, 2008
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290Nicholas T Gorden, Heleen H Arts, Melissa A Parisi, et al.
Pageof 13