HuGE Literature Finder
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Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. Genes, brain, and behavior 2018 Jan . Zhou Peng, He Na, Zhang Jing-Wen, Lin Zhi-Jian, Wang Jie, Yan Li-Min, Meng Heng, Tang Bin, Li Bing-Mei, Liu Xiao-Rong, Shi Yi-Wu, Zhai Qiong-Xiang, Yi Yong-Hong, Liao Wei-Pi |
Identification of rs7350481 at chromosome 11q23.3 as a novel susceptibility locus for metabolic syndrome in Japanese individuals by an exome-wide association study. Oncotarget 2017 Apr . Yamada Yoshiji, Sakuma Jun, Takeuchi Ichiro, Yasukochi Yoshiki, Kato Kimihiko, Oguri Mitsutoshi, Fujimaki Tetsuo, Horibe Hideki, Muramatsu Masaaki, Sawabe Motoji, Fujiwara Yoshinori, Taniguchi Yu, Obuchi Shuichi, Kawai Hisashi, Shinkai Shoji, Mori Seijiro, Arai Tomio, Tanaka Masas |
Association of ATG5 Gene Polymorphisms With Behçet's Disease and ATG10 Gene Polymorphisms With VKH Syndrome in a Chinese Han Population. Investigative ophthalmology & visual science 2015 Dec 56 (13): 8280-7. Zheng Minming, Yu Hongsong, Zhang Lijun, Li Hua, Liu Yunjia, Kijlstra Aize, Yang Peize |
Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. PLoS genetics 2015 Nov 11 (11): e1005637. Tyburczy Magdalena E, Dies Kira A, Glass Jennifer, Camposano Susana, Chekaluk Yvonne, Thorner Aaron R, Lin Ling, Krueger Darcy, Franz David N, Thiele Elizabeth A, Sahin Mustafa, Kwiatkowski David |
Clinical symptoms of tuberous sclerosis complex in patients with an identical TSC2 mutation. Medical science monitor : international medical journal of experimental and clinical research 2005 May 11 (5): CR230-234. Rok Paulina, Kasprzyk-Obara Jolanta, Doma?ska-Pakie?a Dorota, Jó?wiak Sergiu |
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. American journal of human genetics 2001 Jan 68 (1): 64-80. Dabora S L, Jozwiak S, Franz D N, Roberts P S, Nieto A, Chung J, Choy Y S, Reeve M P, Thiele E, Egelhoff J C, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski D |
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