Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Erwin van Wijk

Showing results (71-80 of 82) with videos related to

Pageof 9
Sort By:
Proceedings of the National Academy of Sciences of the United States of America|May 30, 2013
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculatureRob W J Collin, Konstantinos Nikopoulos, Margo Dona, et al.
Human Mutation|June 6, 2006
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing lossErsan Kalay, Yun Li, Abdullah Uzumcu, et al.
Journal of Medical Genetics|September 12, 2006
Development of a genotyping microarray for Usher syndromeFrans P M Cremers, William J Kimberling, Maigi Külm, et al.
American Journal of Human Genetics|July 3, 2018
MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and MouseMieke Wesdorp, Silvia Murillo-Cuesta, Theo Peters, et al.
Disease Models & Mechanisms|January 10, 2017
A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathyCelia Zazo Seco, Anna Castells-Nobau, Seol-Hee Joo, 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.
The Journal of Clinical Investigation|June 17, 2021
Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsyUdo Fh Engelke, Rianne E van Outersterp, Jona Merx, 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.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
<i>FRMPD4</i> , a causal gene for intellectual disability and epilepsy, is associated with X-linked non-syndromic hearing lossDaniel Liedtke, Kristen Rak, Katrina M Schrode, et al.
Plos One|May 17, 2019
CiliaCarta: An integrated and validated compendium of ciliary genesTeunis J P van Dam, Julie Kennedy, Robin van der Lee, et al.
Pageof 9

Showing results (71-80 of 82) with videos related to

Sort By:
Pageof 9
Proceedings of the National Academy of Sciences of the United States of America|May 30, 2013
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculatureRob W J Collin, Konstantinos Nikopoulos, Margo Dona, et al.
Human Mutation|June 6, 2006
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing lossErsan Kalay, Yun Li, Abdullah Uzumcu, et al.
Journal of Medical Genetics|September 12, 2006
Development of a genotyping microarray for Usher syndromeFrans P M Cremers, William J Kimberling, Maigi Külm, et al.
American Journal of Human Genetics|July 3, 2018
MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and MouseMieke Wesdorp, Silvia Murillo-Cuesta, Theo Peters, et al.
Disease Models & Mechanisms|January 10, 2017
A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathyCelia Zazo Seco, Anna Castells-Nobau, Seol-Hee Joo, 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.
The Journal of Clinical Investigation|June 17, 2021
Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsyUdo Fh Engelke, Rianne E van Outersterp, Jona Merx, 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.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
<i>FRMPD4</i> , a causal gene for intellectual disability and epilepsy, is associated with X-linked non-syndromic hearing lossDaniel Liedtke, Kristen Rak, Katrina M Schrode, et al.
Plos One|May 17, 2019
CiliaCarta: An integrated and validated compendium of ciliary genesTeunis J P van Dam, Julie Kennedy, Robin van der Lee, et al.
Pageof 9