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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 - 2 (of 2 Records)

Query Trace: Rett Syndrome and STXBP1[original query]
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
American journal of medical genetics. Part A 2015 Sep 167 (9): 2017-25.
Olson Heather E, Tambunan Dimira, LaCoursiere Christopher, Goldenberg Marti, Pinsky Rebecca, Martin Emilie, Ho Eugenia, Khwaja Omar, Kaufmann Walter E, Poduri Annapur
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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