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Stephan Ossowski

Showing results (131-140 of 155) with videos related to

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Gigascience|September 20, 2024
An interconnected data infrastructure to support large-scale rare disease researchLennart F Johansson, Steve Laurie, Dylan Spalding, et al.
Nature Genetics|March 13, 2012
KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephronHélène Louis-Dit-Picard, Julien Barc, Daniel Trujillano, et al.
Journal of Medical Genetics|November 6, 2021
Bi-allelic loss-of-function variants in <i>KIF21A</i> cause severe fetal akinesia with arthrogryposis multiplexRuth J Falb, Amelie J Müller, Wolfram Klein, et al.
Medrxiv : the Preprint Server for Health Sciences|November 1, 2024
Isolated prolapse of the posterior mitral valve leaflet: phenotypic refinement, heritability and genetic etiologyAntoine Rimbert, Damien Duval, Daniel Trujillano, et al.
Brain : a Journal of Neurology|February 22, 2024
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformationsLucia Laugwitz, Fubo Cheng, Stephan C Collins, et al.
NPJ Precision Oncology|October 20, 2023
Multicentric pilot study to standardize clinical whole exome sequencing (WES) for cancer patientsMichael Menzel, Stephan Ossowski, Sebastian Kral, et al.
Nature Medicine|October 15, 2025
Germany's national genomDE strategyAndreas Till, Roman A Siddiqui, Christian Altbürger, et al.
American Journal of Human Genetics|May 22, 2021
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorderHolger Hengel, Shabab B Hannan, Sarah Dyack, et al.
Neuro-Oncology Advances|March 14, 2023
Clinical outcome of biomarker-guided therapies in adult patients with tumors of the nervous systemMirjam Renovanz, Sylvia C Kurz, Johannes Rieger, et al.
Nature|August 11, 2015
Mutations in DCHS1 cause mitral valve prolapseRonen Durst, Kimberly Sauls, David S Peal, et al.
Pageof 16

Showing results (131-140 of 155) with videos related to

Sort By:
Pageof 16
Gigascience|September 20, 2024
An interconnected data infrastructure to support large-scale rare disease researchLennart F Johansson, Steve Laurie, Dylan Spalding, et al.
Nature Genetics|March 13, 2012
KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephronHélène Louis-Dit-Picard, Julien Barc, Daniel Trujillano, et al.
Journal of Medical Genetics|November 6, 2021
Bi-allelic loss-of-function variants in <i>KIF21A</i> cause severe fetal akinesia with arthrogryposis multiplexRuth J Falb, Amelie J Müller, Wolfram Klein, et al.
Medrxiv : the Preprint Server for Health Sciences|November 1, 2024
Isolated prolapse of the posterior mitral valve leaflet: phenotypic refinement, heritability and genetic etiologyAntoine Rimbert, Damien Duval, Daniel Trujillano, et al.
Brain : a Journal of Neurology|February 22, 2024
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformationsLucia Laugwitz, Fubo Cheng, Stephan C Collins, et al.
NPJ Precision Oncology|October 20, 2023
Multicentric pilot study to standardize clinical whole exome sequencing (WES) for cancer patientsMichael Menzel, Stephan Ossowski, Sebastian Kral, et al.
Nature Medicine|October 15, 2025
Germany's national genomDE strategyAndreas Till, Roman A Siddiqui, Christian Altbürger, et al.
American Journal of Human Genetics|May 22, 2021
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorderHolger Hengel, Shabab B Hannan, Sarah Dyack, et al.
Neuro-Oncology Advances|March 14, 2023
Clinical outcome of biomarker-guided therapies in adult patients with tumors of the nervous systemMirjam Renovanz, Sylvia C Kurz, Johannes Rieger, et al.
Nature|August 11, 2015
Mutations in DCHS1 cause mitral valve prolapseRonen Durst, Kimberly Sauls, David S Peal, et al.
Pageof 16