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Journal of Inherited Metabolic Disease
|
July 19, 2020
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management
Ruqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, et al.
Neurology
|
June 4, 2020
Different phenotypes in dermatomyositis associated with anti-MDA5 antibody: Study of 121 cases
Yves Allenbach, Yurdagul Uzunhan, Ségolène Toquet, et al.
Acta Neuropathologica
|
July 8, 2017
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
Valérie Biancalana, Sophie Scheidecker, Marguerite Miguet, et al.
Journal of Internal Medicine
|
November 24, 2025
Janus kinase and calcineurin-inhibitor combination in anti-MDA5 dermatomyositis: No significant survival benefit but reassuring safety profile
Valentine Pagis, Quentin Astouati, Lucas Pacoureau, et al.
Acta Neuropathologica
|
January 15, 2021
Making sense of missense variants in TTN-related congenital myopathies
Martin Rees, Roksana Nikoopour, Atsushi Fukuzawa, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
March 18, 2017
The 2017 international classification of the Ehlers-Danlos syndromes
Fransiska Malfait, Clair Francomano, Peter Byers, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 16, 2025
Missense variants in <i>TUBA4A</i> cause myo-tubulinopathies
Mridul Johari, Chiara Folland, Yoshihiko Saito, et al.
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of 5
Search research articles
Search
Showing results (41-50 of 47) with videos related to
Sort By:
Page
of 5
You have reached the last page of results.
This site can display upto 47 results.
Journal of Inherited Metabolic Disease
|
July 19, 2020
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management
Ruqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, et al.
Neurology
|
June 4, 2020
Different phenotypes in dermatomyositis associated with anti-MDA5 antibody: Study of 121 cases
Yves Allenbach, Yurdagul Uzunhan, Ségolène Toquet, et al.
Acta Neuropathologica
|
July 8, 2017
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
Valérie Biancalana, Sophie Scheidecker, Marguerite Miguet, et al.
Journal of Internal Medicine
|
November 24, 2025
Janus kinase and calcineurin-inhibitor combination in anti-MDA5 dermatomyositis: No significant survival benefit but reassuring safety profile
Valentine Pagis, Quentin Astouati, Lucas Pacoureau, et al.
Acta Neuropathologica
|
January 15, 2021
Making sense of missense variants in TTN-related congenital myopathies
Martin Rees, Roksana Nikoopour, Atsushi Fukuzawa, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
March 18, 2017
The 2017 international classification of the Ehlers-Danlos syndromes
Fransiska Malfait, Clair Francomano, Peter Byers, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 16, 2025
Missense variants in <i>TUBA4A</i> cause myo-tubulinopathies
Mridul Johari, Chiara Folland, Yoshihiko Saito, et al.
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of 5