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Volker Straub

Showing results (361-370 of 374) with videos related to

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Neurology. Genetics|July 18, 2025
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem ProteinopathyMarianela Schiava, Yolande Parkhurst, Matthew Henderson, et al.
American Journal of Human Genetics|April 2, 2024
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic diseaseGabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Journal of Neurology|August 21, 2023
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosisDiana Esteller, Marianela Schiava, José Verdú-Díaz, et al.
Medrxiv : the Preprint Server for Health Sciences|October 24, 2023
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic diseaseGabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Neurology|January 11, 2019
Assessment of disease progression in dysferlinopathy: A 1-year cohort studyUrsula Moore, Marni Jacobs, Meredith K James, et al.
Brain : a Journal of Neurology|February 12, 2026
Missense variants in TUBA4A cause myo-tubulinopathiesMridul Johari, Chiara Folland, Yoshihiko Saito, et al.
Medrxiv : the Preprint Server for Health Sciences|February 8, 2024
Unique Capabilities of Genome Sequencing for Rare Disease DiagnosisMonica H Wojcik, Gabrielle Lemire, Maha S Zaki, et al.
Brain : a Journal of Neurology|July 30, 2023
Neuromuscular disease genetics in under-represented populations: increasing data diversityLindsay A Wilson, William L Macken, Luke D Perry, et al.
Medrxiv : the Preprint Server for Health Sciences|July 3, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencingAlba Sanchis-Juan, Yulia Mostovoy, Sarah L Stenton, et al.
Annals of Neurology|April 26, 2018
Congenital Titinopathy: Comprehensive characterization and pathogenic insightsEmily C Oates, Kristi J Jones, Sandra Donkervoort, et al.
Pageof 38

Showing results (361-370 of 374) with videos related to

Sort By:
Pageof 38
Neurology. Genetics|July 18, 2025
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem ProteinopathyMarianela Schiava, Yolande Parkhurst, Matthew Henderson, et al.
American Journal of Human Genetics|April 2, 2024
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic diseaseGabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Journal of Neurology|August 21, 2023
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosisDiana Esteller, Marianela Schiava, José Verdú-Díaz, et al.
Medrxiv : the Preprint Server for Health Sciences|October 24, 2023
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic diseaseGabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Neurology|January 11, 2019
Assessment of disease progression in dysferlinopathy: A 1-year cohort studyUrsula Moore, Marni Jacobs, Meredith K James, et al.
Brain : a Journal of Neurology|February 12, 2026
Missense variants in TUBA4A cause myo-tubulinopathiesMridul Johari, Chiara Folland, Yoshihiko Saito, et al.
Medrxiv : the Preprint Server for Health Sciences|February 8, 2024
Unique Capabilities of Genome Sequencing for Rare Disease DiagnosisMonica H Wojcik, Gabrielle Lemire, Maha S Zaki, et al.
Brain : a Journal of Neurology|July 30, 2023
Neuromuscular disease genetics in under-represented populations: increasing data diversityLindsay A Wilson, William L Macken, Luke D Perry, et al.
Medrxiv : the Preprint Server for Health Sciences|July 3, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencingAlba Sanchis-Juan, Yulia Mostovoy, Sarah L Stenton, et al.
Annals of Neurology|April 26, 2018
Congenital Titinopathy: Comprehensive characterization and pathogenic insightsEmily C Oates, Kristi J Jones, Sandra Donkervoort, et al.
Pageof 38