Human Genome Epidemiology Literature Finder
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Records 1 - 6 (of 6 Records) |
| Query Trace: Rhabdomyolysis and RYR1[original query] |
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| Genetic variation in RYR1 and malignant hyperthermia phenotypes. British journal of anaesthesia 2009 Oct 103 (4): 538-48. Carpenter D, Robinson R L, Quinnell R J, Ringrose C, Hogg M, Casson F, Booms P, Iles D E, Halsall P J, Steele D S, Shaw M-A, Hopkins P |
| Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome. Acta neurologica Scandinavica 2018 4 137 (5): 452-461. Witting N, Laforêt P, Voermans N C, Roux-Buisson N, Bompaire F, Rendu J, Duno M, Feillet F, Kamsteeg E-J, Poulsen N S, Dahlqvist J R, Romero N B, Fauré J, Vissing J, Behin |
| Functional impairments, fatigue and quality of life in RYR1-related myopathies: A questionnaire study. Neuromuscular disorders : NMD 2018 12 29 (1): 30-38. van Ruitenbeek E, Custers J A E, Verhaak C, Snoeck M, Erasmus C E, Kamsteeg E J, Schouten M I, Coleman C, Treves S, Van Engelen B G, Jungbluth H, Voermans N |
| Investigating the genetic susceptibility to exertional heat illness. Journal of medical genetics 2020 Feb . Gardner Lois, Miller Dorota M, Daly Catherine, Gupta Pawan K, House Carol, Roiz de Sa Daniel, Shaw Marie-Anne, Hopkins Philip |
| Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance. Scientific reports 2021 2 11 (1): 3445. Hoppe Kerstin, Jurkat-Rott Karin, Kranepuhl Stefanie, Wearing Scott, Heiderich Sebastian, Merlak Sonja, Klingler Wern |
| Referral Indications for Malignant Hyperthermia Susceptibility Diagnostics in Patients without Adverse Anesthetic Events in the Era of Next-generation Sequencing. Anesthesiology 2022 3 136 (6): 940-953. van den Bersselaar Luuk R, Hellblom Anna, Gashi Mejdan, Kamsteeg Erik-Jan, Voermans Nicol C, Jungbluth Heinz, de Puydt Joris, Heytens Luc, Riazi Sheila, Snoeck Marc M |
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