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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Counseling and RYR1[original query]
Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy.
Neuromuscular disorders : NMD 2015 Jul 25 (7): 567-76.
Kraeva N, Heytens L, Jungbluth H, Treves S, Voermans N, Kamsteeg E, Ceuterick-de Groote C, Baets J, Riazi
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Journal of neuromuscular diseases 2019 5 6 (2): 241-258.
Westra Dineke, Schouten Meyke I, Stunnenberg Bas C, Kusters Benno, Saris Christiaan G J, Erasmus Corrie E, van Engelen Baziel G, Bulk Saskia, Verschuuren-Bemelmans Corien C, Gerkes E H, de Geus Christa, van der Zwaag P A, Chan Sophelia, Chung Brian, Barge-Schaapveld Daniela Q C M, Kriek Marjolein, Sznajer Yves, van Spaendonck-Zwarts Karin, van der Kooi Anneke J, Krause Amanda, Schönewolf-Greulich Bitten, de Die-Smulders Christine, Sallevelt Suzanne C E H, Krapels Ingrid P C, Rasmussen Magnhild, Maystadt Isabelle, Kievit Anneke J A, Witting Nanna, Pennings Maartje, Meijer Rowdy, Gillissen Christian, Kamsteeg Erik-Jan, Voermans Nicol
[Genotype and phenotype analysis of neonates with neonatal encephalopathy complicated with perinatal hypoxic event].
Zhonghua er ke za zhi = Chinese journal of pediatrics 2021 3 59 (4): 280-285.
Xiao T T, Yang L, Wu B B, Peng X M, Wang H J, Cheng G Q, Wang L S, Cao Y, Hu L Y, Zhou W
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