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Alexander Hoischen

Showing results (231-240 of 249) with videos related to

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Genome Research|March 26, 2025
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencingWouter Steyaert, Lydia Sagath, German Demidov, et al.
American Journal of Human Genetics|March 5, 2016
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum DisordersHolly A F Stessman, Marjolein H Willemsen, Michaela Fenckova, et al.
European Journal of Human Genetics : EJHG|September 7, 2017
Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencingIngrid P Vogelaar, Rachel S van der Post, J Han Jm van Krieken, et al.
Medrxiv : the Preprint Server for Health Sciences|May 15, 2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencingWouter Steyaert, Lydia Sagath, German Demidov, et al.
Plos Genetics|March 28, 2017
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignanciesRocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, et al.
Frontiers in Cell and Developmental Biology|February 23, 2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosisDaan M Panneman, Rebekkah J Hitti-Malin, Lara K Holtes, et al.
Genome Medicine|June 18, 2019
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficienciesPeer Arts, Annet Simons, Mofareh S AlZahrani, et al.
The New England Journal of Medicine|June 21, 2023
Systemic Inflammation and Normocytic Anemia in DOCK11 DeficiencyJana Block, Christina Rashkova, Irinka Castanon, et al.
Nature Genetics|January 6, 2026
Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare diseaseVicente A Yépez, German Demidov, Kornelia Ellwanger, et al.
Nature Genetics|September 9, 2025
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare diseaseVicente A Yépez, German Demidov, Kornelia Ellwanger, et al.
Pageof 25

Showing results (231-240 of 249) with videos related to

Sort By:
Pageof 25
Genome Research|March 26, 2025
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencingWouter Steyaert, Lydia Sagath, German Demidov, et al.
American Journal of Human Genetics|March 5, 2016
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum DisordersHolly A F Stessman, Marjolein H Willemsen, Michaela Fenckova, et al.
European Journal of Human Genetics : EJHG|September 7, 2017
Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencingIngrid P Vogelaar, Rachel S van der Post, J Han Jm van Krieken, et al.
Medrxiv : the Preprint Server for Health Sciences|May 15, 2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencingWouter Steyaert, Lydia Sagath, German Demidov, et al.
Plos Genetics|March 28, 2017
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignanciesRocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, et al.
Frontiers in Cell and Developmental Biology|February 23, 2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosisDaan M Panneman, Rebekkah J Hitti-Malin, Lara K Holtes, et al.
Genome Medicine|June 18, 2019
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficienciesPeer Arts, Annet Simons, Mofareh S AlZahrani, et al.
The New England Journal of Medicine|June 21, 2023
Systemic Inflammation and Normocytic Anemia in DOCK11 DeficiencyJana Block, Christina Rashkova, Irinka Castanon, et al.
Nature Genetics|January 6, 2026
Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare diseaseVicente A Yépez, German Demidov, Kornelia Ellwanger, et al.
Nature Genetics|September 9, 2025
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare diseaseVicente A Yépez, German Demidov, Kornelia Ellwanger, et al.
Pageof 25