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1
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 report
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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 report

Li, Xianghong ; Li, Liangshan ; Sun, Yaqi ; Lv, Fuyan ; Zhang, Guoqing ; Liu, Wenmiao ; Zhang, Meiyan ; Jiang, Hong ; Liu, Shiguo

BMC medical genetics, 2019-08-27, Vol.20 (1), p.146-146 [Peer Reviewed Journal]

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2
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 review
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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 review

Chen, Ying-Fa ; Chang, Yung-Yee ; Lan, Min-Yu ; Chen, Pei-Lung ; Lin, Chin-Hsien

BMC neurology, 2017-10-06, Vol.17 (1), p.191-191 [Peer Reviewed Journal]

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3
Narcolepsy with obstructive sleep apnea in a 4-year-old Korean girl: a case report
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Narcolepsy with obstructive sleep apnea in a 4-year-old Korean girl: a case report

Kwon, Soonhak ; Jang, Kyungmi ; Hwang, Sukyung ; Cho, Minhyun ; Seo, Hyeeun

Journal of Korean medical science, 2013-05, Vol.28 (5), p.792-794 [Peer Reviewed Journal]

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