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C Voermans

Showing results (171-180 of 344) with videos related to

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British Journal of Anaesthesia|August 6, 2024
Myopathic manifestations across the adult lifespan of patients with malignant hyperthermia susceptibility: a narrative reviewCarlos A Ibarra Moreno, Helga C A Silva, Nicol C Voermans, et al.
Disability and Rehabilitation|September 16, 2021
Experiences of patients with facioscapulohumeral dystrophy with facial weakness: a qualitative studySümeyye Sezer, Edith H C Cup, Lieve M Roets-Merken, et al.
Journal of Applied Physiology (Bethesda, Md. : 1985)|June 10, 2017
Skeletal muscle morphology, protein synthesis, and gene expression in Ehlers-Danlos syndromeRie H Nygaard, Jakob K Jensen, Nicol C Voermans, et al.
Clinical and Translational Gastroenterology|January 14, 2025
Tenascin-X Deficiency Causing Classical-Like Ehlers-Danlos Syndrome Type 1 in Humans is a Significant Risk Factor of Gastrointestinal and Tracheal RupturesJonneke E van Gurp, Rosan L Lechner, Dimitra Micha, et al.
Anesthesiology|March 14, 2022
Referral Indications for Malignant Hyperthermia Susceptibility Diagnostics in Patients without Adverse Anesthetic Events in the Era of Next-generation SequencingLuuk R van den Bersselaar, Anna Hellblom, Mejdan Gashi, et al.
Journal of Neurology|February 11, 2022
Long-term follow-up of respiratory function in facioscapulohumeral muscular dystrophySjan Teeselink, Sanne C C Vincenten, Nicol C Voermans, et al.
Journal of Neuromuscular Diseases|October 31, 2022
Bone Quality in Patients with a Congenital Myopathy: A Scoping ReviewKarlijn Bouman, Anne T M Dittrich, Jan T Groothuis, et al.
Clinical Genetics|September 2, 2016
Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patientsS Demirdas, E Dulfer, L Robert, et al.
Neuromuscular Disorders : NMD|September 27, 2008
Clinical and molecular overlap between myopathies and inherited connective tissue diseasesN C Voermans, C G Bönnemann, P A Huijing, et al.
European Journal of Human Genetics : EJHG|May 12, 2026
EMQN Best Practice Guidelines for Genetic Testing and Reporting in RYR1-related disordersRachel L Robinson, Thatjana Gardeitchik, Meyke I Schouten, et al.
Pageof 35

Showing results (171-180 of 344) with videos related to

Sort By:
Pageof 35
British Journal of Anaesthesia|August 6, 2024
Myopathic manifestations across the adult lifespan of patients with malignant hyperthermia susceptibility: a narrative reviewCarlos A Ibarra Moreno, Helga C A Silva, Nicol C Voermans, et al.
Disability and Rehabilitation|September 16, 2021
Experiences of patients with facioscapulohumeral dystrophy with facial weakness: a qualitative studySümeyye Sezer, Edith H C Cup, Lieve M Roets-Merken, et al.
Journal of Applied Physiology (Bethesda, Md. : 1985)|June 10, 2017
Skeletal muscle morphology, protein synthesis, and gene expression in Ehlers-Danlos syndromeRie H Nygaard, Jakob K Jensen, Nicol C Voermans, et al.
Clinical and Translational Gastroenterology|January 14, 2025
Tenascin-X Deficiency Causing Classical-Like Ehlers-Danlos Syndrome Type 1 in Humans is a Significant Risk Factor of Gastrointestinal and Tracheal RupturesJonneke E van Gurp, Rosan L Lechner, Dimitra Micha, et al.
Anesthesiology|March 14, 2022
Referral Indications for Malignant Hyperthermia Susceptibility Diagnostics in Patients without Adverse Anesthetic Events in the Era of Next-generation SequencingLuuk R van den Bersselaar, Anna Hellblom, Mejdan Gashi, et al.
Journal of Neurology|February 11, 2022
Long-term follow-up of respiratory function in facioscapulohumeral muscular dystrophySjan Teeselink, Sanne C C Vincenten, Nicol C Voermans, et al.
Journal of Neuromuscular Diseases|October 31, 2022
Bone Quality in Patients with a Congenital Myopathy: A Scoping ReviewKarlijn Bouman, Anne T M Dittrich, Jan T Groothuis, et al.
Clinical Genetics|September 2, 2016
Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patientsS Demirdas, E Dulfer, L Robert, et al.
Neuromuscular Disorders : NMD|September 27, 2008
Clinical and molecular overlap between myopathies and inherited connective tissue diseasesN C Voermans, C G Bönnemann, P A Huijing, et al.
European Journal of Human Genetics : EJHG|May 12, 2026
EMQN Best Practice Guidelines for Genetic Testing and Reporting in RYR1-related disordersRachel L Robinson, Thatjana Gardeitchik, Meyke I Schouten, et al.
Pageof 35