Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: Epilepsy and IQSEC2[original query] |
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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 |
Next-generation sequencing in X-linked intellectual disability. European journal of human genetics : EJHG 2015 Feb . Tzschach Andreas, Grasshoff Ute, Beck-Woedl Stefanie, Dufke Claudia, Bauer Claudia, Kehrer Martin, Evers Christina, Moog Ute, Oehl-Jaschkowitz Barbara, Di Donato Nataliya, Maiwald Robert, Jung Christine, Kuechler Alma, Schulz Solveig, Meinecke Peter, Spranger Stephanie, Kohlhase Jürgen, Seidel Jörg, Reif Silke, Rieger Manuela, Riess Angelika, Sturm Marc, Bickmann Julia, Schroeder Christopher, Dufke Andreas, Riess Olaf, Bauer Pet |
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 |
Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate-induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy. Epilepsia 2018 9 59 (11): 2125-2136. Hynynen Johanna, Pokka Tytti, Komulainen-Ebrahim Jonna, Myllynen Päivi, Kärppä Mikko, Pylvänen Laura, Kälviäinen Reetta, Sokka Arja, Jyrkilä Aino, Lähdetie Jaana, Haataja Leena, Mäkitalo Anna, Ylikotila Pauli, Eriksson Kai, Haapala Piia, Ansakorpi Hanna, Hinttala Reetta, Vieira Päivi, Majamaa Kari, Rantala Heikki, Uusimaa Johan |
Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene. European journal of medical genetics 2019 8 63 (3): 103735. Barrie Elizabeth S, Cottrell Catherine E, Gastier-Foster Julie, Hickey Scott E, Patel Anup D, Santoro Stephanie L, Alfaro Maria |
Genetic diagnoses in pediatric patients with epilepsy and comorbid intellectual disability. Epilepsy research 2021 1 170 106552. Yang Mei, Xu Bocheng, Wang Jiamin, Zhang Zhu, Xie Hanbing, Wang He, Hu Ting, Liu Shanli |
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- Page last updated:Apr 16, 2024
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