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2,437 results
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Association between genetic variation of CACNA1H and childhood absence epilepsy.
Chen Y, Lu J, Pan H, Zhang Y, Wu H, Xu K, Liu X, Jiang Y, Bao X, Yao Z, Ding K, Lo WH, Qiang B, Chan P, Shen Y, Wu X. Chen Y, et al. Ann Neurol. 2003 Aug;54(2):239-43. doi: 10.1002/ana.10607. Ann Neurol. 2003. PMID: 12891677
[Diagnosis and treatment of biotinidase deficiency-clinical study of six patients].
Yang YL, Yamaguchi S, Tagami Y, Zhang YH, Xiong H, Hasegawa Y, Kimura M, Hanai J, Fujita K, Qian N, He XJ, Wu Y, Bao XH, Qin J, Wu X. Yang YL, et al. Zhonghua Er Ke Za Zhi. 2003 Apr;41(4):249-51. Zhonghua Er Ke Za Zhi. 2003. PMID: 14754524 Chinese.
ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy.
Pan H, Xiong H, Wu Y, Zhang YH, Bao XH, Jiang YW, Wu XR. Pan H, et al. Pediatr Neurol. 2005 Aug;33(2):114-20. doi: 10.1016/j.pediatrneurol.2005.03.006. Pediatr Neurol. 2005. PMID: 16087056
X-linked adrenoleukodystrophy is a neurodegenerative disorder caused by mutations in the adrenoleukodystrophy (ALD) protein gene ABCD1. This study used direct sequencing of genomic polymerase chain reaction products to perform mutational analysis of ABCD1 in 34 unrelated C
X-linked adrenoleukodystrophy is a neurodegenerative disorder caused by mutations in the adrenoleukodystrophy (ALD) protein gene ABCD
Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome.
Yang YL, Sun F, Zhang Y, Qian N, Yuan Y, Wang ZX, Qi Y, Xiao JX, Wang XY, Qi ZY, Zhang YH, Jiang YW, Bao XH, Qin J, Wu XR. Yang YL, et al. Chin Med J (Engl). 2006 Mar 5;119(5):373-7. Chin Med J (Engl). 2006. PMID: 16542579
[Analysis of ARSA mutations in a Chinese family with metachromatic leukodystrophy].
Wang JM, Jiang YW, Shi HP, Zhang WM, Pan H, Bao XH, Wu Y, Qin J, Wu XR. Wang JM, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Aug;23(4):378-82. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006. PMID: 16883521 Chinese.
[Diagnostic value of muscle, sural nerve and skin biopsies in childhood neuromuscular disorders].
Chang XZ, Zhou JY, Yuan Y, Wu Y, Li YX, Zhang W, Jiang YW, Bao XH, Zhang YH, Wang S, Xiong H, Yang YL, Qin J. Chang XZ, et al. Zhonghua Er Ke Za Zhi. 2006 Dec;44(12):909-12. Zhonghua Er Ke Za Zhi. 2006. PMID: 17254458 Chinese.
[Etiologic and clinical characteristics of syncope in children].
Zhang QY, DU JB, Qin J, Chen YH, Li WZ, Bao XH. Zhang QY, et al. Zhonghua Er Ke Za Zhi. 2007 Jan;45(1):59-63. Zhonghua Er Ke Za Zhi. 2007. PMID: 17349155 Chinese.
ARSA gene mutations in five Chinese metachromatic leukodystrophy patients.
Wang J, Zhang W, Pan H, Bao X, Wu Y, Wu X, Jiang Y. Wang J, et al. Pediatr Neurol. 2007 Jun;36(6):397-401. doi: 10.1016/j.pediatrneurol.2007.02.011. Pediatr Neurol. 2007. PMID: 17560502
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