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 (91-100 of 307) with videos related to

Pageof 31
Sort By:
Ophthalmology|December 3, 2014
Early-onset stargardt disease: phenotypic and genotypic characteristicsStanley Lambertus, Ramon A C van Huet, Nathalie M Bax, et al.
American Journal of Human Genetics|March 13, 2018
Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt DiseaseSilvia Albert, Alejandro Garanto, Riccardo Sangermano, et al.
International Journal of Molecular Sciences|April 1, 2020
In or Out? New Insights on Exon Recognition through Splice-Site InterdependencyMubeen Khan, Stéphanie S Cornelis, Riccardo Sangermano, et al.
Translational Vision Science & Technology|December 28, 2019
Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by <i>CRB1</i> MutationsKrunoslav T Stingl, Laura Kuehlewein, Nicole Weisschuh, et al.
Journal of Medical Genetics|December 20, 2003
A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26)E van Wijk, E Krieger, M H Kemperman, et al.
Experimental Cell Research|October 9, 2007
FERM protein EPB41L5 is a novel member of the mammalian CRB-MPP5 polarity complexIlse Gosens, Alessandro Sessa, Anneke I den Hollander, et al.
Investigative Ophthalmology & Visual Science|August 10, 2019
Foveal Sparing in Central Retinal DystrophiesNathalie M Bax, Dyon Valkenburg, Stanley Lambertus, et al.
European Journal of Human Genetics : EJHG|March 26, 2015
Cerebral visual impairment and intellectual disability caused by PGAP1 variantsDaniëlle G M Bosch, F Nienke Boonstra, Taroh Kinoshita, et al.
Molecular Vision|December 24, 2010
Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosaMuhammad Imran Khan, Rob W J Collin, Kentar Arimadyo, et al.
Ophthalmic Genetics|March 23, 2002
Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13)J J C van Lith-Verhoeven, S D van der Velde-Visser, M M Sohocki, et al.
Pageof 31

Showing results (91-100 of 307) with videos related to

Sort By:
Pageof 31
Ophthalmology|December 3, 2014
Early-onset stargardt disease: phenotypic and genotypic characteristicsStanley Lambertus, Ramon A C van Huet, Nathalie M Bax, et al.
American Journal of Human Genetics|March 13, 2018
Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt DiseaseSilvia Albert, Alejandro Garanto, Riccardo Sangermano, et al.
International Journal of Molecular Sciences|April 1, 2020
In or Out? New Insights on Exon Recognition through Splice-Site InterdependencyMubeen Khan, Stéphanie S Cornelis, Riccardo Sangermano, et al.
Translational Vision Science & Technology|December 28, 2019
Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by <i>CRB1</i> MutationsKrunoslav T Stingl, Laura Kuehlewein, Nicole Weisschuh, et al.
Journal of Medical Genetics|December 20, 2003
A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26)E van Wijk, E Krieger, M H Kemperman, et al.
Experimental Cell Research|October 9, 2007
FERM protein EPB41L5 is a novel member of the mammalian CRB-MPP5 polarity complexIlse Gosens, Alessandro Sessa, Anneke I den Hollander, et al.
Investigative Ophthalmology & Visual Science|August 10, 2019
Foveal Sparing in Central Retinal DystrophiesNathalie M Bax, Dyon Valkenburg, Stanley Lambertus, et al.
European Journal of Human Genetics : EJHG|March 26, 2015
Cerebral visual impairment and intellectual disability caused by PGAP1 variantsDaniëlle G M Bosch, F Nienke Boonstra, Taroh Kinoshita, et al.
Molecular Vision|December 24, 2010
Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosaMuhammad Imran Khan, Rob W J Collin, Kentar Arimadyo, et al.
Ophthalmic Genetics|March 23, 2002
Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13)J J C van Lith-Verhoeven, S D van der Velde-Visser, M M Sohocki, et al.
Pageof 31