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Journal of Neuromuscular Diseases
|
July 17, 2023
Development of Assays to Measure GNE Gene Potency and Gene Replacement in Skeletal Muscle
Deborah A Zygmunt, Patricia Lam, Anna Ashbrook, et al.
STAR Protocols
|
June 20, 2025
Protocol to implement saturation mutagenesis-reinforced functional assays to resolve small-sized variants in disease-related genes
Logan O Gauthier, Ziyi Wang, Kenneth K Ng, et al.
BMC Musculoskeletal Disorders
|
May 16, 2009
Myoblast sensitivity and fibroblast insensitivity to osteogenic conversion by BMP-2 correlates with the expression of Bmpr-1a
Renjing Liu, Samantha L Ginn, Monkol Lek, et al.
Research Square
|
February 13, 2023
Flavones provide resistance to DUX4-induced toxicity via an mTor-independent mechanism
Justin Cohen, Shushu Huang, Katherine Koczwara, et al.
Plos One
|
January 30, 2013
ACTN3 allele frequency in humans covaries with global latitudinal gradient
Scott M Friedlander, Amanda L Herrmann, Daniel P Lowry, et al.
Practical Neurology
|
April 24, 2017
A 'limb-girdle muscular dystrophy' responsive to asthma therapy
Eoin Mulroy, Roula Ghaoui, David Hutchinson, et al.
Nature Communications
|
February 18, 2026
Mitochondrial heteroplasmy is a risk factor for the development of chronic lymphocytic leukemia
Sergiu Pasca, Yun Soo Hong, Wen Shi, et al.
Nature Communications
|
November 1, 2016
Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects
James Zou, Gregory Valiant, Paul Valiant, et al.
Neuromuscular Disorders : NMD
|
June 26, 2016
TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy
Roula Ghaoui, Tatiana Benavides, Monkol Lek, et al.
Neuromuscular Disorders : NMD
|
June 19, 2018
A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair
Sonja Strang-Karlsson, Katherine Johnson, Ana Töpf, et al.
Page
of 16
Search research articles
Search
Showing results (21-30 of 153) with videos related to
Sort By:
Page
of 16
Journal of Neuromuscular Diseases
|
July 17, 2023
Development of Assays to Measure GNE Gene Potency and Gene Replacement in Skeletal Muscle
Deborah A Zygmunt, Patricia Lam, Anna Ashbrook, et al.
STAR Protocols
|
June 20, 2025
Protocol to implement saturation mutagenesis-reinforced functional assays to resolve small-sized variants in disease-related genes
Logan O Gauthier, Ziyi Wang, Kenneth K Ng, et al.
BMC Musculoskeletal Disorders
|
May 16, 2009
Myoblast sensitivity and fibroblast insensitivity to osteogenic conversion by BMP-2 correlates with the expression of Bmpr-1a
Renjing Liu, Samantha L Ginn, Monkol Lek, et al.
Research Square
|
February 13, 2023
Flavones provide resistance to DUX4-induced toxicity via an mTor-independent mechanism
Justin Cohen, Shushu Huang, Katherine Koczwara, et al.
Plos One
|
January 30, 2013
ACTN3 allele frequency in humans covaries with global latitudinal gradient
Scott M Friedlander, Amanda L Herrmann, Daniel P Lowry, et al.
Practical Neurology
|
April 24, 2017
A 'limb-girdle muscular dystrophy' responsive to asthma therapy
Eoin Mulroy, Roula Ghaoui, David Hutchinson, et al.
Nature Communications
|
February 18, 2026
Mitochondrial heteroplasmy is a risk factor for the development of chronic lymphocytic leukemia
Sergiu Pasca, Yun Soo Hong, Wen Shi, et al.
Nature Communications
|
November 1, 2016
Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects
James Zou, Gregory Valiant, Paul Valiant, et al.
Neuromuscular Disorders : NMD
|
June 26, 2016
TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy
Roula Ghaoui, Tatiana Benavides, Monkol Lek, et al.
Neuromuscular Disorders : NMD
|
June 19, 2018
A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair
Sonja Strang-Karlsson, Katherine Johnson, Ana Töpf, et al.
Page
of 16