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Medrxiv : the Preprint Server for Health Sciences
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April 8, 2024
The recurrent deep intronic pseudoexon-inducing variant <i>COL6A1</i> c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy
A Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.
Brain : a Journal of Neurology
|
April 3, 2025
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T
A Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.
Brain : a Journal of Neurology
|
February 12, 2025
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD
Andrea Cortese, Maike F Dohrn, Riccardo Curro, et al.
Nature Biotechnology
|
June 19, 2007
Characterization of human embryonic stem cell lines by the International Stem Cell Initiative
, Oluseun Adewumi, Behrouz Aflatoonian, et al.
European Heart Journal
|
March 6, 2026
Laminopathies: natural history and risk prediction of heart failure
Philippe Charron, Julie Proukhnitzky, Rabah Ben Yaou, et al.
Viruses
|
June 24, 2022
Nationwide Harmonization Effort for Semi-Quantitative Reporting of SARS-CoV-2 PCR Test Results in Belgium
Lize Cuypers, Jannes Bode, Kurt Beuselinck, et al.
Circulation
|
June 4, 2019
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies
Karim Wahbi, Rabah Ben Yaou, Estelle Gandjbakhch, et al.
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Search research articles
Search
Showing results (1061-1070 of 1,067) with videos related to
Sort By:
Page
of 107
You have reached the last page of results.
This site can display upto 1,067 results.
Medrxiv : the Preprint Server for Health Sciences
|
April 8, 2024
The recurrent deep intronic pseudoexon-inducing variant <i>COL6A1</i> c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy
A Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.
Brain : a Journal of Neurology
|
April 3, 2025
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T
A Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.
Brain : a Journal of Neurology
|
February 12, 2025
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD
Andrea Cortese, Maike F Dohrn, Riccardo Curro, et al.
Nature Biotechnology
|
June 19, 2007
Characterization of human embryonic stem cell lines by the International Stem Cell Initiative
, Oluseun Adewumi, Behrouz Aflatoonian, et al.
European Heart Journal
|
March 6, 2026
Laminopathies: natural history and risk prediction of heart failure
Philippe Charron, Julie Proukhnitzky, Rabah Ben Yaou, et al.
Viruses
|
June 24, 2022
Nationwide Harmonization Effort for Semi-Quantitative Reporting of SARS-CoV-2 PCR Test Results in Belgium
Lize Cuypers, Jannes Bode, Kurt Beuselinck, et al.
Circulation
|
June 4, 2019
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies
Karim Wahbi, Rabah Ben Yaou, Estelle Gandjbakhch, et al.
Page
of 107