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International Journal of Molecular Sciences
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July 27, 2024
An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy
Alba Segarra-Casas, Vicente A Yépez, German Demidov, et al.
Neuromuscular Disorders : NMD
|
December 22, 2024
Desmoid tumour: a rare cause of congenital unilateral calf enlargement mimicking calf hypertrophy
Maha Elseed, James N Sampson, Tuomo Polvikoski, et al.
European Journal of Human Genetics : EJHG
|
June 4, 2025
Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models
Barbara Tedesco, Stojan Peric, Goknur Selen Kocak, et al.
Neurology. Genetics
|
July 18, 2025
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy
Marianela Schiava, Yolande Parkhurst, Matthew Henderson, et al.
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of 1
Search research articles
Search
Showing results (1-10 of 4) with videos related to
Sort By:
Page
of 1
International Journal of Molecular Sciences
|
July 27, 2024
An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy
Alba Segarra-Casas, Vicente A Yépez, German Demidov, et al.
Neuromuscular Disorders : NMD
|
December 22, 2024
Desmoid tumour: a rare cause of congenital unilateral calf enlargement mimicking calf hypertrophy
Maha Elseed, James N Sampson, Tuomo Polvikoski, et al.
European Journal of Human Genetics : EJHG
|
June 4, 2025
Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models
Barbara Tedesco, Stojan Peric, Goknur Selen Kocak, et al.
Neurology. Genetics
|
July 18, 2025
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy
Marianela Schiava, Yolande Parkhurst, Matthew Henderson, et al.
Page
of 1