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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 - 5 (of 5 Records)

Query Trace: Syndrome and RYR1[original query]
Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population.
Scientific reports 2016 6 29088.
Wang Yan, Peng Wei, Guo Hong-Yan, Li Hui, Tian Jie, Shi Yu-Jing, Yang Xiao, Yang Yao, Zhang Wan-Qiao, Liu Xin, Liu Guan-Nan, Deng Tao, Sun Yi-Min, Xing Wan-Li, Cheng Jing, Feng Zhi-Ch
Novel West syndrome candidate genes in a Chinese cohort.
CNS neuroscience & therapeutics 2018 4 24 (12): 1196-1206.
Peng Jing, Wang Ying, He Fang, Chen Chen, Wu Li-Wen, Yang Li-Fen, Ma Yu-Ping, Zhang Wen, Shi Zi-Qing, Chen Chao, Xia Kun, Guo Hui, Yin Fei, Pang N
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
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.
Circulation research 2019 Feb 124 (4): 553-563.
Page Donna J, Miossec Matthieu J, Williams Simon G, Monaghan Richard M, Fotiou Elisavet, Cordell Heather J, Sutcliffe Louise, Topf Ana, Bourgey Mathieu, Bourque Guillaume, Eveleigh Robert, Dunwoodie Sally L, Winlaw David S, Bhattacharya Shoumo, Breckpot Jeroen, Devriendt Koenraad, Gewillig Marc, Brook J David, Setchfield Kerry J, Bu'Lock Frances A, O'Sullivan John, Stuart Graham, Bezzina Connie R, Mulder Barbara J M, Postma Alex V, Bentham James R, Baron Martin, Bhaskar Sanjeev S, Black Graeme C, Newman William G, Hentges Kathryn E, Lathrop G Mark, Santibanez-Koref Mauro, Keavney Bernard
[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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