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Ronald Roepman

Showing results (61-70 of 122) with videos related to

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American Journal of Medical Genetics. Part A|February 20, 2016
De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopiaMarijn F Stokman, Machteld M Oud, Ellen van Binsbergen, et al.
American Journal of Human Genetics|September 7, 2010
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndromeChristian Gilissen, Heleen H Arts, Alexander Hoischen, et al.
Frontiers in Cell and Developmental Biology|June 26, 2026
ZDHHC5 interacts physically and functionally with DLG1 at primary cilia and regulates ciliary length and kidney morphologyCsenge Kata Rezi, Canan Doganli, Mariam G Aslanyan, et al.
American Journal of Medical Genetics. Part A|March 29, 2014
Early presentation of cystic kidneys in a family with a homozygous INVS mutationMachteld M Oud, Bregje W van Bon, Ernie M H F Bongers, et al.
European Journal of Human Genetics : EJHG|August 25, 2016
Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genesEdgar S Wills, Wybrich R Cnossen, Joris A Veltman, et al.
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.
Human Molecular Genetics|January 26, 2006
The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1Erwin van Wijk, Bert van der Zwaag, Theo Peters, et al.
Human Mutation|October 2, 2004
CRB1 mutation spectrum in inherited retinal dystrophiesAnneke I den Hollander, Jason Davis, Saskia D van der Velde-Visser, et al.
Pageof 13

Showing results (61-70 of 122) with videos related to

Sort By:
Pageof 13
American Journal of Medical Genetics. Part A|February 20, 2016
De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopiaMarijn F Stokman, Machteld M Oud, Ellen van Binsbergen, et al.
American Journal of Human Genetics|September 7, 2010
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndromeChristian Gilissen, Heleen H Arts, Alexander Hoischen, et al.
Frontiers in Cell and Developmental Biology|June 26, 2026
ZDHHC5 interacts physically and functionally with DLG1 at primary cilia and regulates ciliary length and kidney morphologyCsenge Kata Rezi, Canan Doganli, Mariam G Aslanyan, et al.
American Journal of Medical Genetics. Part A|March 29, 2014
Early presentation of cystic kidneys in a family with a homozygous INVS mutationMachteld M Oud, Bregje W van Bon, Ernie M H F Bongers, et al.
European Journal of Human Genetics : EJHG|August 25, 2016
Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genesEdgar S Wills, Wybrich R Cnossen, Joris A Veltman, et al.
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.
Human Molecular Genetics|January 26, 2006
The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1Erwin van Wijk, Bert van der Zwaag, Theo Peters, et al.
Human Mutation|October 2, 2004
CRB1 mutation spectrum in inherited retinal dystrophiesAnneke I den Hollander, Jason Davis, Saskia D van der Velde-Visser, et al.
Pageof 13