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

Alexander Hoischen

Showing results (111-120 of 249) with videos related to

Pageof 25
Sort By:
American Journal of Human Genetics|June 4, 2026
HiFi sequencing accurately identifies clinically relevant variants in paralogous genesBart van der Sanden, Christian Betz, Katharina Herzog, et al.
Human Molecular Genetics|April 19, 2012
Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomesJack-Christophe Cossec, Jérémie Lavaur, Diego E Berman, et al.
American Journal of Human Genetics|March 1, 2016
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow SyndromeJanson J White, Juliana F Mazzeu, Alexander Hoischen, et al.
Ebiomedicine|May 20, 2023
Evolution of age-related mutation-driven clonal haematopoiesis over 20 years is associated with metabolic dysfunction in obesityJohanna C Andersson-Assarsson, Rosanne C van Deuren, Felipe M Kristensson, et al.
American Journal of Human Genetics|January 14, 2025
HiFi long-read genomes for difficult-to-detect, clinically relevant variantsWolfram Höps, Marjan M Weiss, Ronny Derks, et al.
Human Molecular Genetics|April 12, 2012
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencingSharita Timal, Alexander Hoischen, Ludwig Lehle, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 8, 2014
Human TLR10 is an anti-inflammatory pattern-recognition receptorMarije Oosting, Shih-Chin Cheng, Judith M Bolscher, et al.
European Journal of Human Genetics : EJHG|August 1, 2020
National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficienciesKim Elsink, Manon M H Huibers, Iris H I M Hollink, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 15, 2013
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal ArthrogryposisBertrand Coste, Gunnar Houge, Michael F Murray, et al.
The Journal of Allergy and Clinical Immunology|May 2, 2016
Immunologic defects in severe mucocutaneous HSV-2 infections: Response to IFN-γ therapyPeer Arts, Frank L van de Veerdonk, Robin van der Lee, et al.
Pageof 25

Showing results (111-120 of 249) with videos related to

Sort By:
Pageof 25
American Journal of Human Genetics|June 4, 2026
HiFi sequencing accurately identifies clinically relevant variants in paralogous genesBart van der Sanden, Christian Betz, Katharina Herzog, et al.
Human Molecular Genetics|April 19, 2012
Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomesJack-Christophe Cossec, Jérémie Lavaur, Diego E Berman, et al.
American Journal of Human Genetics|March 1, 2016
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow SyndromeJanson J White, Juliana F Mazzeu, Alexander Hoischen, et al.
Ebiomedicine|May 20, 2023
Evolution of age-related mutation-driven clonal haematopoiesis over 20 years is associated with metabolic dysfunction in obesityJohanna C Andersson-Assarsson, Rosanne C van Deuren, Felipe M Kristensson, et al.
American Journal of Human Genetics|January 14, 2025
HiFi long-read genomes for difficult-to-detect, clinically relevant variantsWolfram Höps, Marjan M Weiss, Ronny Derks, et al.
Human Molecular Genetics|April 12, 2012
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencingSharita Timal, Alexander Hoischen, Ludwig Lehle, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 8, 2014
Human TLR10 is an anti-inflammatory pattern-recognition receptorMarije Oosting, Shih-Chin Cheng, Judith M Bolscher, et al.
European Journal of Human Genetics : EJHG|August 1, 2020
National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficienciesKim Elsink, Manon M H Huibers, Iris H I M Hollink, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 15, 2013
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal ArthrogryposisBertrand Coste, Gunnar Houge, Michael F Murray, et al.
The Journal of Allergy and Clinical Immunology|May 2, 2016
Immunologic defects in severe mucocutaneous HSV-2 infections: Response to IFN-γ therapyPeer Arts, Frank L van de Veerdonk, Robin van der Lee, et al.
Pageof 25