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Marc Sturm

Showing results (61-70 of 106) with videos related to

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Movement Disorders : Official Journal of the Movement Disorder Society|November 29, 2018
Understanding the role of genetic variability in LRRK2 in Indian populationAsha Kishore, Ashwin Ashok Kumar Sreelatha, Marc Sturm, et al.
Breast (Edinburgh, Scotland)|May 22, 2025
Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefitsDennis Witt, Marc Sturm, Antje Stäbler, et al.
F1000Research|September 30, 2024
NCBench: providing an open, reproducible, transparent, adaptable, and continuous benchmark approach for DNA-sequencing-based variant callingFriederike Hanssen, Gisela Gabernet, Famke Bäuerle, et al.
Annals of Clinical and Translational Neurology|July 30, 2019
KCNC1-related disorders: new de novo variants expand the phenotypic spectrumJoohyun Park, Mahmoud Koko, Ulrike B S Hedrich, et al.
Clinical Genetics|February 15, 2020
Genetic basis of neurodevelopmental disorders in 103 Jordanian familiesTawfiq Froukh, Omar Nafie, Sana' A S Al Hait, et al.
European Journal of Human Genetics : EJHG|June 21, 2024
Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score lociAlexandra Baumann, Christian Ruckert, Christoph Meier, et al.
Brain : a Journal of Neurology|January 18, 2021
Bi-allelic truncating mutations in VWA1 cause neuromyopathyMarcus Deschauer, Holger Hengel, Katrin Rupprich, et al.
Human Mutation|September 24, 2019
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activationNicole Weisschuh, Marc Sturm, Britta Baumann, et al.
European Journal of Human Genetics : EJHG|February 5, 2015
Next-generation sequencing in X-linked intellectual disabilityAndreas Tzschach, Ute Grasshoff, Stefanie Beck-Woedl, et al.
Lab Animal|June 24, 2024
Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe)Kornelia Ellwanger, Julie A Brill, Elke de Boer, et al.
Pageof 11

Showing results (61-70 of 106) with videos related to

Sort By:
Pageof 11
Movement Disorders : Official Journal of the Movement Disorder Society|November 29, 2018
Understanding the role of genetic variability in LRRK2 in Indian populationAsha Kishore, Ashwin Ashok Kumar Sreelatha, Marc Sturm, et al.
Breast (Edinburgh, Scotland)|May 22, 2025
Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefitsDennis Witt, Marc Sturm, Antje Stäbler, et al.
F1000Research|September 30, 2024
NCBench: providing an open, reproducible, transparent, adaptable, and continuous benchmark approach for DNA-sequencing-based variant callingFriederike Hanssen, Gisela Gabernet, Famke Bäuerle, et al.
Annals of Clinical and Translational Neurology|July 30, 2019
KCNC1-related disorders: new de novo variants expand the phenotypic spectrumJoohyun Park, Mahmoud Koko, Ulrike B S Hedrich, et al.
Clinical Genetics|February 15, 2020
Genetic basis of neurodevelopmental disorders in 103 Jordanian familiesTawfiq Froukh, Omar Nafie, Sana' A S Al Hait, et al.
European Journal of Human Genetics : EJHG|June 21, 2024
Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score lociAlexandra Baumann, Christian Ruckert, Christoph Meier, et al.
Brain : a Journal of Neurology|January 18, 2021
Bi-allelic truncating mutations in VWA1 cause neuromyopathyMarcus Deschauer, Holger Hengel, Katrin Rupprich, et al.
Human Mutation|September 24, 2019
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activationNicole Weisschuh, Marc Sturm, Britta Baumann, et al.
European Journal of Human Genetics : EJHG|February 5, 2015
Next-generation sequencing in X-linked intellectual disabilityAndreas Tzschach, Ute Grasshoff, Stefanie Beck-Woedl, et al.
Lab Animal|June 24, 2024
Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe)Kornelia Ellwanger, Julie A Brill, Elke de Boer, et al.
Pageof 11