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Showing results (311-320 of 344) with videos related to

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European Journal of Neurology|May 12, 2015
RYR1-related myopathies: a wide spectrum of phenotypes throughout lifeM Snoeck, B G M van Engelen, B Küsters, et al.
European Journal of Neurology|August 16, 2022
European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disordersLuuk R van den Bersselaar, Luc Heytens, Helga C A Silva, et al.
Neuromuscular Disorders : NMD|August 24, 2024
A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the NetherlandsEsmee S B van Kleef, Sanne A J H van de Camp, Jan T Groothuis, et al.
Orphanet Journal of Rare Diseases|November 25, 2020
Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)Renata S Scalco, Alejandro Lucia, Alfredo Santalla, et al.
Genome Research|March 20, 2025
Optical genome mapping enables accurate testing of large repeat expansionsBart van der Sanden, Kornelia Neveling, Syukri Shukor, et al.
Human Mutation|September 11, 2014
Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variabilitySandra Donkervoort, Ying Hu, Tanya Stojkovic, et al.
Neurobiology of Aging|March 12, 2014
No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathyMeinie Seelen, Anne E Visser, Daniel J Overste, et al.
Clinical Genetics|April 29, 2024
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelinesEmiliano Giardina, Pilar Camaño, Sarah Burton-Jones, et al.
Orphanet Journal of Rare Diseases|July 24, 2023
Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participationWalaa Karazi, Renata S Scalco, Mads G Stemmerik, et al.
Frontiers in Immunology|October 26, 2023
Immunological profiling in long COVID: overall low grade inflammation and T-lymphocyte senescence and increased monocyte activation correlating with increasing fatigue severityJulia C Berentschot, Hemmo A Drexhage, Daniel G Aynekulu Mersha, et al.
Pageof 35

Showing results (311-320 of 344) with videos related to

Sort By:
Pageof 35
European Journal of Neurology|May 12, 2015
RYR1-related myopathies: a wide spectrum of phenotypes throughout lifeM Snoeck, B G M van Engelen, B Küsters, et al.
European Journal of Neurology|August 16, 2022
European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disordersLuuk R van den Bersselaar, Luc Heytens, Helga C A Silva, et al.
Neuromuscular Disorders : NMD|August 24, 2024
A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the NetherlandsEsmee S B van Kleef, Sanne A J H van de Camp, Jan T Groothuis, et al.
Orphanet Journal of Rare Diseases|November 25, 2020
Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)Renata S Scalco, Alejandro Lucia, Alfredo Santalla, et al.
Genome Research|March 20, 2025
Optical genome mapping enables accurate testing of large repeat expansionsBart van der Sanden, Kornelia Neveling, Syukri Shukor, et al.
Human Mutation|September 11, 2014
Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variabilitySandra Donkervoort, Ying Hu, Tanya Stojkovic, et al.
Neurobiology of Aging|March 12, 2014
No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathyMeinie Seelen, Anne E Visser, Daniel J Overste, et al.
Clinical Genetics|April 29, 2024
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelinesEmiliano Giardina, Pilar Camaño, Sarah Burton-Jones, et al.
Orphanet Journal of Rare Diseases|July 24, 2023
Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participationWalaa Karazi, Renata S Scalco, Mads G Stemmerik, et al.
Frontiers in Immunology|October 26, 2023
Immunological profiling in long COVID: overall low grade inflammation and T-lymphocyte senescence and increased monocyte activation correlating with increasing fatigue severityJulia C Berentschot, Hemmo A Drexhage, Daniel G Aynekulu Mersha, et al.
Pageof 35