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

P M Cremers

Showing results (71-80 of 307) with videos related to

Pageof 31
Sort By:
Proceedings of the National Academy of Sciences of the United States of America|December 13, 2005
Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutationsRonald Roepman, Stef J F Letteboer, Heleen H Arts, et al.
Human Mutation|September 27, 2016
Deletions Overlapping VCAN Exon 8 Are New Molecular Defects for Wagner DiseaseCyril Burin-des-Roziers, Pierre-Raphael Rothschild, Valérie Layet, et al.
Molecular Vision|October 19, 2012
Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian familyAnna M Siemiatkowska, Galuh D N Astuti, Kentar Arimadyo, et al.
International Journal of Molecular Sciences|November 11, 2022
Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in <i>USH2A</i>Janine Reurink, Jaap Oostrik, Marco Aben, et al.
Human Molecular Genetics|September 22, 2006
Towards understanding CRUMBS function in retinal dystrophiesMélisande Richard, Ronald Roepman, Wendy M Aartsen, et al.
Journal of Translational Medicine|August 16, 2023
Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 functionMelita Kaltak, Rocio Blanco-Garavito, Laurie L Molday, et al.
Developmental Biology|July 10, 2004
Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissuesWei Shi, José A J M van den Hurk, Victor Alamo-Bethencourt, et al.
Journal of Medical Genetics|August 19, 2018
Homozygous variants in <i>KIAA1549</i>, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosaSuzanne E de Bruijn, Sanne K Verbakel, Erik de Vrieze, et al.
Ophthalmic Genetics|April 1, 2016
Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophyYangfan P Liu, Daniëlle G M Bosch, Anna M Siemiatkowska, et al.
Human Mutation|April 14, 2025
Compendium of Clinical Variant Classification for 2,246 Unique <i>ABCA4</i> Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP FrameworkStéphanie S Cornelis, Miriam Bauwens, Lonneke Haer-Wigman, et al.
Pageof 31

Showing results (71-80 of 307) with videos related to

Sort By:
Pageof 31
Proceedings of the National Academy of Sciences of the United States of America|December 13, 2005
Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutationsRonald Roepman, Stef J F Letteboer, Heleen H Arts, et al.
Human Mutation|September 27, 2016
Deletions Overlapping VCAN Exon 8 Are New Molecular Defects for Wagner DiseaseCyril Burin-des-Roziers, Pierre-Raphael Rothschild, Valérie Layet, et al.
Molecular Vision|October 19, 2012
Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian familyAnna M Siemiatkowska, Galuh D N Astuti, Kentar Arimadyo, et al.
International Journal of Molecular Sciences|November 11, 2022
Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in <i>USH2A</i>Janine Reurink, Jaap Oostrik, Marco Aben, et al.
Human Molecular Genetics|September 22, 2006
Towards understanding CRUMBS function in retinal dystrophiesMélisande Richard, Ronald Roepman, Wendy M Aartsen, et al.
Journal of Translational Medicine|August 16, 2023
Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 functionMelita Kaltak, Rocio Blanco-Garavito, Laurie L Molday, et al.
Developmental Biology|July 10, 2004
Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissuesWei Shi, José A J M van den Hurk, Victor Alamo-Bethencourt, et al.
Journal of Medical Genetics|August 19, 2018
Homozygous variants in <i>KIAA1549</i>, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosaSuzanne E de Bruijn, Sanne K Verbakel, Erik de Vrieze, et al.
Ophthalmic Genetics|April 1, 2016
Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophyYangfan P Liu, Daniëlle G M Bosch, Anna M Siemiatkowska, et al.
Human Mutation|April 14, 2025
Compendium of Clinical Variant Classification for 2,246 Unique <i>ABCA4</i> Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP FrameworkStéphanie S Cornelis, Miriam Bauwens, Lonneke Haer-Wigman, et al.
Pageof 31