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C Voermans

Showing results (231-240 of 344) with videos related to

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Neuromuscular Disorders : NMD|June 19, 2012
Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: a review of literature and a cross-sectional clinical study in 17 patientsN C Voermans, A E Laan, A Oosterhof, et al.
Journal of the Peripheral Nervous System : JPNS|June 28, 2012
Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletionNicol C Voermans, Tjitske Kleefstra, Anneke A Gabreëls-Festen, et al.
Translational Research : the Journal of Laboratory and Clinical Medicine|July 27, 2018
Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiencyNurulamin Abu Bakar, Nicol C Voermans, Thorsten Marquardt, et al.
Annals of the Rheumatic Diseases|February 25, 2011
Monocyte migration to the synovium in rheumatoid arthritis patients treated with adalimumabM M J Herenius, R M Thurlings, C A Wijbrandts, et al.
Clinical Genetics|September 14, 2018
Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1Karlien Mul, Nicol C Voermans, Richard J L F Lemmers, et al.
Journal of Neuromuscular Diseases|December 18, 2023
Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily LifeWalaa Karazi, Jacqueline Coppers, Daphne Maas, et al.
British Journal of Anaesthesia|June 15, 2021
RYR1 variant c.38T>G, p.Leu13Arg causes hypersensitivity of the ryanodine receptor-1 and is pathogenic for malignant hyperthermiaL R van den Bersselaar, T Greven, T Bulger, et al.
BMC Neurology|October 15, 2013
Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocolSaskia Lassche, Coen A C Ottenheijm, Nicol C Voermans, et al.
Infectious Diseases (London, England)|October 16, 2018
A longitudinal and cross-sectional study ofEpstein-Barr virus DNA load: a possible predictor of AIDS-related lymphoma in HIV-infected patientsS H Hijlkema, J J A van Kampen, J J C Voermans, et al.
Journal of Neuromuscular Diseases|August 16, 2024
Individuals and Families Affected by RYR1-Related Diseases: The Patient/Caregiver PerspectiveSanne A J H van de Camp, Lizan Stinissen, Andrew Huseth, et al.
Pageof 35

Showing results (231-240 of 344) with videos related to

Sort By:
Pageof 35
Neuromuscular Disorders : NMD|June 19, 2012
Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: a review of literature and a cross-sectional clinical study in 17 patientsN C Voermans, A E Laan, A Oosterhof, et al.
Journal of the Peripheral Nervous System : JPNS|June 28, 2012
Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletionNicol C Voermans, Tjitske Kleefstra, Anneke A Gabreëls-Festen, et al.
Translational Research : the Journal of Laboratory and Clinical Medicine|July 27, 2018
Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiencyNurulamin Abu Bakar, Nicol C Voermans, Thorsten Marquardt, et al.
Annals of the Rheumatic Diseases|February 25, 2011
Monocyte migration to the synovium in rheumatoid arthritis patients treated with adalimumabM M J Herenius, R M Thurlings, C A Wijbrandts, et al.
Clinical Genetics|September 14, 2018
Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1Karlien Mul, Nicol C Voermans, Richard J L F Lemmers, et al.
Journal of Neuromuscular Diseases|December 18, 2023
Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily LifeWalaa Karazi, Jacqueline Coppers, Daphne Maas, et al.
British Journal of Anaesthesia|June 15, 2021
RYR1 variant c.38T>G, p.Leu13Arg causes hypersensitivity of the ryanodine receptor-1 and is pathogenic for malignant hyperthermiaL R van den Bersselaar, T Greven, T Bulger, et al.
BMC Neurology|October 15, 2013
Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocolSaskia Lassche, Coen A C Ottenheijm, Nicol C Voermans, et al.
Infectious Diseases (London, England)|October 16, 2018
A longitudinal and cross-sectional study ofEpstein-Barr virus DNA load: a possible predictor of AIDS-related lymphoma in HIV-infected patientsS H Hijlkema, J J A van Kampen, J J C Voermans, et al.
Journal of Neuromuscular Diseases|August 16, 2024
Individuals and Families Affected by RYR1-Related Diseases: The Patient/Caregiver PerspectiveSanne A J H van de Camp, Lizan Stinissen, Andrew Huseth, et al.
Pageof 35