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Nicol Voermans

Showing results (41-50 of 47) with videos related to

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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 managementRuqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, et al.
Neurology|June 4, 2020
Different phenotypes in dermatomyositis associated with anti-MDA5 antibody: Study of 121 casesYves 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 cluesValérie 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 profileValentine Pagis, Quentin Astouati, Lucas Pacoureau, et al.
Acta Neuropathologica|January 15, 2021
Making sense of missense variants in TTN-related congenital myopathiesMartin 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 syndromesFransiska 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-tubulinopathiesMridul Johari, Chiara Folland, Yoshihiko Saito, et al.
Pageof 5

Showing results (41-50 of 47) with videos related to

Sort By:
Pageof 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 managementRuqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, et al.
Neurology|June 4, 2020
Different phenotypes in dermatomyositis associated with anti-MDA5 antibody: Study of 121 casesYves 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 cluesValérie 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 profileValentine Pagis, Quentin Astouati, Lucas Pacoureau, et al.
Acta Neuropathologica|January 15, 2021
Making sense of missense variants in TTN-related congenital myopathiesMartin 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 syndromesFransiska 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-tubulinopathiesMridul Johari, Chiara Folland, Yoshihiko Saito, et al.
Pageof 5