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Volker Straub

Showing results (331-340 of 374) with videos related to

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Science Translational Medicine|April 21, 2017
Improving genetic diagnosis in Mendelian disease with transcriptome sequencingBeryl B Cummings, Jamie L Marshall, Taru Tukiainen, et al.
Annals of Clinical and Translational Neurology|December 31, 2025
Whole-Body Pattern of Muscle Degeneration and Progression in SarcoglycanopathiesLaura Costa-Comellas, Mauro Monforte, Angel Sanchez-Montañez, et al.
American Journal of Human Genetics|November 20, 2020
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric CoresSandra Donkervoort, Carl E Kutzner, Ying Hu, et al.
Annals of Neurology|February 12, 2021
Assessing Dysferlinopathy Patients Over Three Years With a New Motor ScaleMarni B Jacobs, Meredoith K James, Linda P Lowes, et al.
Frontiers in Neurology|April 1, 2022
Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis ApproachAnna G Mayhew, Meredith K James, Ursula Moore, et al.
Contemporary Clinical Trials|April 29, 2017
Developing standardized corticosteroid treatment for Duchenne muscular dystrophyMichela Guglieri, Kate Bushby, Michael P McDermott, et al.
Neurology. Genetics|August 17, 2023
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem ProteinopathyMarianela Schiava, Chiseko Ikenaga, Ana Topf, et al.
Nature Medicine|June 1, 2021
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesisPayam Mohassel, Sandra Donkervoort, Museer A Lone, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 1, 2025
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathyAnneke T Vulto-van Silfhout, Ingrid M Jazet, Suzanne Yzer, et al.
Trials|May 26, 2018
A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trialRebecca A Crow, Kimberly A Hart, Michael P McDermott, et al.
Pageof 38

Showing results (331-340 of 374) with videos related to

Sort By:
Pageof 38
Science Translational Medicine|April 21, 2017
Improving genetic diagnosis in Mendelian disease with transcriptome sequencingBeryl B Cummings, Jamie L Marshall, Taru Tukiainen, et al.
Annals of Clinical and Translational Neurology|December 31, 2025
Whole-Body Pattern of Muscle Degeneration and Progression in SarcoglycanopathiesLaura Costa-Comellas, Mauro Monforte, Angel Sanchez-Montañez, et al.
American Journal of Human Genetics|November 20, 2020
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric CoresSandra Donkervoort, Carl E Kutzner, Ying Hu, et al.
Annals of Neurology|February 12, 2021
Assessing Dysferlinopathy Patients Over Three Years With a New Motor ScaleMarni B Jacobs, Meredoith K James, Linda P Lowes, et al.
Frontiers in Neurology|April 1, 2022
Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis ApproachAnna G Mayhew, Meredith K James, Ursula Moore, et al.
Contemporary Clinical Trials|April 29, 2017
Developing standardized corticosteroid treatment for Duchenne muscular dystrophyMichela Guglieri, Kate Bushby, Michael P McDermott, et al.
Neurology. Genetics|August 17, 2023
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem ProteinopathyMarianela Schiava, Chiseko Ikenaga, Ana Topf, et al.
Nature Medicine|June 1, 2021
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesisPayam Mohassel, Sandra Donkervoort, Museer A Lone, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 1, 2025
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathyAnneke T Vulto-van Silfhout, Ingrid M Jazet, Suzanne Yzer, et al.
Trials|May 26, 2018
A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trialRebecca A Crow, Kimberly A Hart, Michael P McDermott, et al.
Pageof 38