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Showing results (1041-1050 of 1,067) with videos related to
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American Journal of Human Genetics
|
November 20, 2020
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores
Sandra Donkervoort, Carl E Kutzner, Ying Hu, et al.
European Journal of Heart Failure
|
May 29, 2021
Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathy
Maria A Restrepo-Cordoba, Karim Wahbi, Anca R Florian, et al.
The New England Journal of Medicine
|
February 7, 2014
Multiple phenotypes in phosphoglucomutase 1 deficiency
Laura C Tegtmeyer, Stephan Rust, Monique van Scherpenzeel, et al.
JACC. Clinical Electrophysiology
|
June 6, 2024
Mode and Characteristics of Arrhythmia Initiation in Idiopathic Ventricular Fibrillation: A THESIS Substudy
Bernard Belhassen, Giulio Conte, Christian Steinberg, et al.
Neurology. Genetics
|
August 17, 2023
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy
Marianela Schiava, Chiseko Ikenaga, Ana Topf, et al.
Brain : a Journal of Neurology
|
May 2, 2024
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis
Julian Theuriet, Marion Masingue, Anthony Behin, et al.
Nature Genetics
|
May 28, 2020
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
Andrea Cortese, Yi Zhu, Adriana P Rebelo, et al.
Neurology
|
November 4, 2020
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on <i>MME</i>
Jan Senderek, Petra Lassuthova, Dagmara Kabzińska, et al.
Nature Communications
|
July 27, 2024
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
Andrea Cortese, Sarah J Beecroft, Stefano Facchini, et al.
Brain : a Journal of Neurology
|
January 9, 2024
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
Riccardo Currò, Natalia Dominik, Stefano Facchini, et al.
Page
of 107
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Showing results (1041-1050 of 1,067) with videos related to
Sort By:
Page
of 107
American Journal of Human Genetics
|
November 20, 2020
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores
Sandra Donkervoort, Carl E Kutzner, Ying Hu, et al.
European Journal of Heart Failure
|
May 29, 2021
Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathy
Maria A Restrepo-Cordoba, Karim Wahbi, Anca R Florian, et al.
The New England Journal of Medicine
|
February 7, 2014
Multiple phenotypes in phosphoglucomutase 1 deficiency
Laura C Tegtmeyer, Stephan Rust, Monique van Scherpenzeel, et al.
JACC. Clinical Electrophysiology
|
June 6, 2024
Mode and Characteristics of Arrhythmia Initiation in Idiopathic Ventricular Fibrillation: A THESIS Substudy
Bernard Belhassen, Giulio Conte, Christian Steinberg, et al.
Neurology. Genetics
|
August 17, 2023
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy
Marianela Schiava, Chiseko Ikenaga, Ana Topf, et al.
Brain : a Journal of Neurology
|
May 2, 2024
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis
Julian Theuriet, Marion Masingue, Anthony Behin, et al.
Nature Genetics
|
May 28, 2020
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
Andrea Cortese, Yi Zhu, Adriana P Rebelo, et al.
Neurology
|
November 4, 2020
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on <i>MME</i>
Jan Senderek, Petra Lassuthova, Dagmara Kabzińska, et al.
Nature Communications
|
July 27, 2024
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
Andrea Cortese, Sarah J Beecroft, Stefano Facchini, et al.
Brain : a Journal of Neurology
|
January 9, 2024
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
Riccardo Currò, Natalia Dominik, Stefano Facchini, et al.
Page
of 107