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Documents Genomic Testing (Secondary Findings) ACT Sheet RYR1 and CACNA1S Pathogenic Variants (Malignant...

Malignant Hyperthermia ACT SheetAimer: This guideline is designed primarily as an educational resource for clinicians to help them provide quality medical care It should

Documents Central core disease: clinical, pathological, and genetic features

ORIGINAL ARTICLE Central core disease: clinical, pathological, and genetic features R M Quinlivan, C R Muller, M Davis, N G Laing, G A Evans, J Dwyer, J Dove, A P Roberts,

Documents 217th ENMC International Workshop: RYR1-related Myopathies, 29-31st January 2016, Naarden, The...

217th ENMC International Workshop: RYR1-related Myopathies, 29-31st January 2016, Naarden, The NetherlandsJanuary 2016, Naarden, The Netherlands Author: Heinz Jungbluth,

Documents WHAT PATIENTS & FAMILIES NEED TO KNOW ABOUT RYR-1-RELATED DISEASES

1 Clincal Care Guidelines Clinical Care Guidelines WHAT PATIENTS & FAMILIES NEED TO KNOW ABOUT RYR-1-RELATED DISEASES 2 Clinical Care Guidelines Disclaimer, please read:

Documents Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients

Received: November 23, 2020 Accepted: November 23, 2020 Correspondence Mariz Vainzof Human Genome and Stem Cell Research Center, IBUSP, Rua do Matão 106, Cidade Universitária,

Documents Malignant Hyperthermia: A Pharmacogenetic Disorder

ORTHO1109Stratman.indd pharmacology update Malignant hyperthermia is a rare, life-threat- ening, autosomal-dominant, pharmacogenetic, anesthetic- related disorder that occurs

Documents Pre-operative exercise and pyrexia as modifying factors in malignant hyperthermia (MH)

Pre-operative exercise and pyrexia as modifying factors in malignant hyperthermia (MH)Contents lists available at ScienceDirect Neuromuscular Disorders hyperthermia (MH)

Documents HyperCKemia and rhabdomyolysis in the neuroleptic malignant and serotonin syndromes: A literature...

PDF hosted at the Radboud Repository of the Radboud University Nijmegen For additional information about this publication click this link. https://hdl.handle.net/2066/229439