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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jun 9, 2023. (Total: 217811Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Rett Syndrome and PCDH19[original query]
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.
Journal of medical genetics 2010 Mar 47 (3): 211-6.
Hynes Kim, Tarpey Patrick, Dibbens Leanne M, Bayly Marta A, Berkovic Samuel F, Smith Raffaella, Raisi Zahyia Al, Turner Samantha J, Brown Natasha J, Desai Tarishi D, Haan Eric, Turner Gillian, Christodoulou John, Leonard Helen, Gill Deepak, Stratton Michael R, Gecz Jozef, Scheffer Ingrid
Novel and de novo mutations in pediatric refractory epilepsy.
Molecular brain 2018 9 11 (1): 48.
Liu Jing, Tong Lili, Song Shuangshuang, Niu Yue, Li Jun, Wu Xiu, Zhang Jie, Zai Clement C, Luo Fang, Wu Jian, Li Haiyin, Wong Albert H C, Sun Ruopeng, Liu Fang, Li Baom
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