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Ronald Roepman

Showing results (71-80 of 122) with videos related to

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Scientific Reports|October 7, 2016
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrumMaleeha Maria, Ideke J C Lamers, Miriam Schmidts, 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.
Journal of Medical Genetics|March 8, 2011
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndromeHeleen H Arts, Ernie M H F Bongers, Dorus A Mans, et al.
Molecular Vision|April 27, 2005
Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosisJosé A J M van den Hurk, Penny Rashbass, Ronald Roepman, et al.
The Journal of Pathology|June 8, 2013
Regulation of E2F1 by the von Hippel-Lindau tumour suppressor protein predicts survival in renal cell cancer patientsDorus A Mans, Joost S Vermaat, Bart G Weijts, et al.
Plos Genetics|October 21, 2015
The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle TraffickingRuxandra Bachmann-Gagescu, Margo Dona, Lisette Hetterschijt, et al.
American Journal of Human Genetics|June 11, 2013
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophySusanne Roosing, Klaus Rohrschneider, Avigail Beryozkin, 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.
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.
Human Molecular Genetics|November 16, 2014
Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retinaAiden Eblimit, Thanh-Minh T Nguyen, Yiyun Chen, et al.
Pageof 13

Showing results (71-80 of 122) with videos related to

Sort By:
Pageof 13
Scientific Reports|October 7, 2016
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrumMaleeha Maria, Ideke J C Lamers, Miriam Schmidts, 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.
Journal of Medical Genetics|March 8, 2011
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndromeHeleen H Arts, Ernie M H F Bongers, Dorus A Mans, et al.
Molecular Vision|April 27, 2005
Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosisJosé A J M van den Hurk, Penny Rashbass, Ronald Roepman, et al.
The Journal of Pathology|June 8, 2013
Regulation of E2F1 by the von Hippel-Lindau tumour suppressor protein predicts survival in renal cell cancer patientsDorus A Mans, Joost S Vermaat, Bart G Weijts, et al.
Plos Genetics|October 21, 2015
The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle TraffickingRuxandra Bachmann-Gagescu, Margo Dona, Lisette Hetterschijt, et al.
American Journal of Human Genetics|June 11, 2013
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophySusanne Roosing, Klaus Rohrschneider, Avigail Beryozkin, 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.
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.
Human Molecular Genetics|November 16, 2014
Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retinaAiden Eblimit, Thanh-Minh T Nguyen, Yiyun Chen, et al.
Pageof 13