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

Sascha Vermeer

Showing results (31-40 of 45) with videos related to

Pageof 5
Sort By:
Transplant International : Official Journal of the European Society for Organ Transplantation|June 2, 2022
The MUC5B Promoter Polymorphism is Not Associated With Non-ILD Chronic Respiratory Diseases or Post-transplant OutcomeTinne Goos, Stijn E Verleden, Laurens J De Sadeleer, et al.
The Journal of Clinical Endocrinology and Metabolism|October 15, 2010
Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous familyEva Morava, Jirko Kühnisch, Jefte M Drijvers, et al.
Human Mutation|May 8, 2026
Variant Curation of the Largest Compendium of <i>FOXL2</i> Coding and Noncoding Sequence and Structural Variants in BPESCharlotte Matton, Julie Van De Velde, Marieke De Bruyne, et al.
Clinical Genetics|August 29, 2024
Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variantsMiriam Bauwens, Vincent De Man, Isabelle Audo, et al.
American Journal of Human Genetics|May 14, 2013
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophyKornelia Neveling, Lilian A Martinez-Carrera, Irmgard Hölker, et al.
European Journal of Human Genetics : EJHG|November 27, 2014
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrationsCharlotte W Ockeloen, Marjolein H Willemsen, Sonja de Munnik, et al.
American Journal of Human Genetics|November 25, 2010
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxiaSascha Vermeer, Alexander Hoischen, Rowdy P P Meijer, et al.
European Journal of Human Genetics : EJHG|August 14, 2015
Further delineation of the KBG syndrome caused by ANKRD11 aberrationsCharlotte W Ockeloen, Marjolein H Willemsen, Sonja de Munnik, et al.
Research Square|May 19, 2025
RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individualsEline Van Vooren, Filip Van den Broeck, Quinten Mahieu, et al.
Investigative Ophthalmology & Visual Science|September 23, 2025
RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected IndividualsEline Van Vooren, Filip Van Den Broeck, Quinten Mahieu, et al.
Pageof 5

Showing results (31-40 of 45) with videos related to

Sort By:
Pageof 5
Transplant International : Official Journal of the European Society for Organ Transplantation|June 2, 2022
The MUC5B Promoter Polymorphism is Not Associated With Non-ILD Chronic Respiratory Diseases or Post-transplant OutcomeTinne Goos, Stijn E Verleden, Laurens J De Sadeleer, et al.
The Journal of Clinical Endocrinology and Metabolism|October 15, 2010
Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous familyEva Morava, Jirko Kühnisch, Jefte M Drijvers, et al.
Human Mutation|May 8, 2026
Variant Curation of the Largest Compendium of <i>FOXL2</i> Coding and Noncoding Sequence and Structural Variants in BPESCharlotte Matton, Julie Van De Velde, Marieke De Bruyne, et al.
Clinical Genetics|August 29, 2024
Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variantsMiriam Bauwens, Vincent De Man, Isabelle Audo, et al.
American Journal of Human Genetics|May 14, 2013
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophyKornelia Neveling, Lilian A Martinez-Carrera, Irmgard Hölker, et al.
European Journal of Human Genetics : EJHG|November 27, 2014
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrationsCharlotte W Ockeloen, Marjolein H Willemsen, Sonja de Munnik, et al.
American Journal of Human Genetics|November 25, 2010
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxiaSascha Vermeer, Alexander Hoischen, Rowdy P P Meijer, et al.
European Journal of Human Genetics : EJHG|August 14, 2015
Further delineation of the KBG syndrome caused by ANKRD11 aberrationsCharlotte W Ockeloen, Marjolein H Willemsen, Sonja de Munnik, et al.
Research Square|May 19, 2025
RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individualsEline Van Vooren, Filip Van den Broeck, Quinten Mahieu, et al.
Investigative Ophthalmology & Visual Science|September 23, 2025
RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected IndividualsEline Van Vooren, Filip Van Den Broeck, Quinten Mahieu, et al.
Pageof 5