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Volker Straub

Showing results (341-350 of 374) 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.
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.
Neurology|February 9, 2024
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled TrialUtkarsh J Dang, Jesse M Damsker, Michela Guglieri, et al.
JAMA Neurology|August 29, 2022
Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical TrialMichela Guglieri, Paula R Clemens, Seth J Perlman, et al.
Brain : a Journal of Neurology|November 21, 2013
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2A Reghan Foley, Manoj P Menezes, Amelie Pandraud, et al.
Nature Communications|April 28, 2022
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophyHong Joo Kim, Payam Mohassel, Sandra Donkervoort, et al.
Human Mutation|January 22, 2015
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutationsCatherine L Bladen, David Salgado, Soledad Monges, et al.
American Journal of Human Genetics|April 16, 2021
A form of muscular dystrophy associated with pathogenic variants in JAG2Sandra Coppens, Alison M Barnard, Sanna Puusepp, et al.
Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Missense variants in <i>TUBA4A</i> cause myo-tubulinopathiesMridul Johari, Chiara Folland, Yoshihiko Saito, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 12, 2018
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophyAlicia Alonso-Jimenez, Rosemarie H M J M Kroon, Aida Alejaldre-Monforte, et al.
Pageof 38

Showing results (341-350 of 374) with videos related to

Sort By:
Pageof 38
Genome Research|March 26, 2025
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencingWouter Steyaert, Lydia Sagath, German Demidov, 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.
Neurology|February 9, 2024
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled TrialUtkarsh J Dang, Jesse M Damsker, Michela Guglieri, et al.
JAMA Neurology|August 29, 2022
Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical TrialMichela Guglieri, Paula R Clemens, Seth J Perlman, et al.
Brain : a Journal of Neurology|November 21, 2013
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2A Reghan Foley, Manoj P Menezes, Amelie Pandraud, et al.
Nature Communications|April 28, 2022
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophyHong Joo Kim, Payam Mohassel, Sandra Donkervoort, et al.
Human Mutation|January 22, 2015
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutationsCatherine L Bladen, David Salgado, Soledad Monges, et al.
American Journal of Human Genetics|April 16, 2021
A form of muscular dystrophy associated with pathogenic variants in JAG2Sandra Coppens, Alison M Barnard, Sanna Puusepp, et al.
Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Missense variants in <i>TUBA4A</i> cause myo-tubulinopathiesMridul Johari, Chiara Folland, Yoshihiko Saito, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 12, 2018
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophyAlicia Alonso-Jimenez, Rosemarie H M J M Kroon, Aida Alejaldre-Monforte, et al.
Pageof 38