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1 |
Material Type: Article
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Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case reportLi, Xianghong ; Li, Liangshan ; Sun, Yaqi ; Lv, Fuyan ; Zhang, Guoqing ; Liu, Wenmiao ; Zhang, Meiyan ; Jiang, Hong ; Liu, ShiguoBMC medical genetics, 2019-08-27, Vol.20 (1), p.146-146 [Peer Reviewed Journal]Full text available |
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Material Type: Article
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Significant association between GPR50 hypomethylation and AD in malesChen, Weihua ; Ji, Huihui ; Li, Liping ; Xu, Chunshuang ; Zou, Ting ; Cui, Wei ; Xu, Shujun ; Zhou, Xiaohui ; Duan, Shiwei ; Wang, QinwenMolecular medicine reports, 2019-08, Vol.20 (2), p.1085-1092 [Peer Reviewed Journal]Full text available |
3 |
Material Type: Article
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Association between CNTNAP2 polymorphisms and autism: A family‐based study in the chinese han population and a meta‐analysis combined with GWAS data of psychiatric genomics consortiumZhang, Tian ; Zhang, Jishui ; Wang, Ziqi ; Jia, Meixiang ; Lu, Tianlan ; Wang, Han ; Yue, Weihua ; Zhang, Dai ; Li, Jun ; Wang, LifangAutism research, 2019-04, Vol.12 (4), p.553-561Full text available |
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Material Type: Article
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Identification of VPS35 p.D620N mutation-related Parkinson's disease in a Taiwanese family with successful bilateral subthalamic nucleus deep brain stimulation: a case report and literature reviewChen, Ying-Fa ; Chang, Yung-Yee ; Lan, Min-Yu ; Chen, Pei-Lung ; Lin, Chin-HsienBMC neurology, 2017-10-06, Vol.17 (1), p.191-191 [Peer Reviewed Journal]Full text available |
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Material Type: Article
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Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patientsOgawa, Erika ; Shimura, Masaru ; Fushimi, Takuya ; Tajika, Makiko ; Ichimoto, Keiko ; Matsunaga, Ayako ; Tsuruoka, Tomoko ; Ishige, Mika ; Fuchigami, Tatsuo ; Yamazaki, Taro ; Mori, Masato ; Kohda, Masakazu ; Kishita, Yoshihito ; Okazaki, Yasushi ; Takahashi, Shori ; Ohtake, Akira ; Murayama, KeiJournal of inherited metabolic disease, 2017-09, Vol.40 (5), p.685-693 [Peer Reviewed Journal]Full text available |
6 |
Material Type: Article
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Serum levels of Glial fibrillary acidic protein in Chinese children with autism spectrum disordersWang, Jingwei ; Zou, Qiuyan ; Han, Renfeng ; Li, Yupeng ; Wang, YulinInternational journal of developmental neuroscience, 2017-04, Vol.57 (1), p.41-45 [Peer Reviewed Journal]No full-text |
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Material Type: Article
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A Novel Association of the Suppressor of Cytokine Signaling 1 (SOCS1) Gene Polymorphisms in Ischemic Stroke PatientsMa, Qi ; Liu, Nana ; Zhang, Ruyou ; Li, Xiaoying ; Zhang, Hui ; Li, Zongmin ; Zhang, Shuang ; Hou, Wenying ; Zhu, Qianhui ; Zheng, Hewei ; Sun, LitaoNeuromolecular medicine, 2016-12, Vol.18 (4), p.573-580 [Peer Reviewed Journal]Full text available |
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Material Type: Article
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Gastrointestinal stromal tumors in Japanese patients with neurofibromatosis type INishida, Toshirou ; Nishida, Toshirou ; Tsujimoto, Masahiko ; Tsujimoto, Masahiko ; Takahashi, Tsuyoshi ; Takahashi, Tsuyoshi ; Hirota, Seiichi ; Hirota, Seiichi ; Blay, Jean-Yves ; Blay, Jean-Yves ; Wataya-Kaneda, Mari ; Wataya-Kaneda, MariJournal of gastroenterology, 2016-06, Vol.51 (6), p.571-578 [Peer Reviewed Journal]Full text available |
9 |
Material Type: Article
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Higher Prevalence of TDP‐43 Proteinopathy in Cognitively Normal Asians: A Clinicopathological Study on a Multiethnic SampleNascimento, Camila ; Suemoto, Claudia K ; Rodriguez, Roberta D ; Alho, Ana Tereza Di Lorenzo ; Leite, Renata P ; Farfel, Jose Marcelo ; Pasqualucci, Carlos Augusto Gonçalves ; Jacob‐Filho, Wilson ; Grinberg, Lea TBrain pathology (Zurich, Switzerland), 2016-03, Vol.26 (2), p.177-185Full text available |
10 |
Material Type: Article
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Identification of mutations in Korean patients with amyotrophic lateral sclerosis using multigene panel testingKim, Hee-Jung ; Oh, Ki-Wook ; Kwon, Min-Jung ; Oh, Seong-il ; Park, Jin-seok ; Kim, Young-Eun ; Choi, Byung-Ok ; Lee, Seungbok ; Ki, Chang-Seok ; Kim, Seung HyunNeurobiology of aging, 2016, Vol.37, p.209.e9-209.e16 [Peer Reviewed Journal]No full-text |