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 (101-110 of 307) with videos related to

Pageof 31
Sort By:
American Journal of Human Genetics|March 12, 2004
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type IIErwin van Wijk, Ronald J E Pennings, Heleen te Brinke, et al.
NPJ Genomic Medicine|April 22, 2025
Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndromeSuzanne E de Bruijn, L Ingeborgh van den Born, Ronny Derks, et al.
European Journal of Human Genetics : EJHG|December 3, 2015
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in DenmarkGaluh D N Astuti, Mette Bertelsen, Markus N Preising, et al.
Archives of Otolaryngology--Head & Neck Surgery|March 17, 2004
A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairmentMartijn H Kemperman, Els M R De Leenheer, Patrick L M Huygen, et al.
Retina (Philadelphia, Pa.)|January 29, 2021
SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular DiagnosisClaudia Yahalom, Oded Volovelsky, Michal Macarov, et al.
Investigative Ophthalmology & Visual Science|August 27, 2005
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier allelesJana Zernant, Maigi Külm, Sharola Dharmaraj, et al.
Molecular Vision|February 23, 2012
Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290Suzanne Yzer, Anneke I den Hollander, Irma Lopez, et al.
American Journal of Human Genetics|February 5, 2022
Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severityStéphanie S Cornelis, Esmee H Runhart, Miriam Bauwens, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|October 15, 2003
A peculiar autosomal dominant macular dystrophy caused by an asparagine deletion at codon 169 in the peripherin/RDS geneJanneke J C van Lith-Verhoeven, Bellinda van den Helm, August F Deutman, et al.
Genes|February 2, 2018
Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone SyndromeKarin W Littink, Patricia T Y Stappers, Frans C C Riemslag, et al.
Pageof 31

Showing results (101-110 of 307) with videos related to

Sort By:
Pageof 31
American Journal of Human Genetics|March 12, 2004
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type IIErwin van Wijk, Ronald J E Pennings, Heleen te Brinke, et al.
NPJ Genomic Medicine|April 22, 2025
Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndromeSuzanne E de Bruijn, L Ingeborgh van den Born, Ronny Derks, et al.
European Journal of Human Genetics : EJHG|December 3, 2015
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in DenmarkGaluh D N Astuti, Mette Bertelsen, Markus N Preising, et al.
Archives of Otolaryngology--Head & Neck Surgery|March 17, 2004
A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairmentMartijn H Kemperman, Els M R De Leenheer, Patrick L M Huygen, et al.
Retina (Philadelphia, Pa.)|January 29, 2021
SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular DiagnosisClaudia Yahalom, Oded Volovelsky, Michal Macarov, et al.
Investigative Ophthalmology & Visual Science|August 27, 2005
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier allelesJana Zernant, Maigi Külm, Sharola Dharmaraj, et al.
Molecular Vision|February 23, 2012
Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290Suzanne Yzer, Anneke I den Hollander, Irma Lopez, et al.
American Journal of Human Genetics|February 5, 2022
Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severityStéphanie S Cornelis, Esmee H Runhart, Miriam Bauwens, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|October 15, 2003
A peculiar autosomal dominant macular dystrophy caused by an asparagine deletion at codon 169 in the peripherin/RDS geneJanneke J C van Lith-Verhoeven, Bellinda van den Helm, August F Deutman, et al.
Genes|February 2, 2018
Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone SyndromeKarin W Littink, Patricia T Y Stappers, Frans C C Riemslag, et al.
Pageof 31