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2,436 results
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[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.
[Diagnosis of congenital muscular dystrophy and clinical significance of merosin expression].
Xiong H, Yao S, Yuan Y, Chang XZ, Wu Y, Bao XH, Zhang YH, Wu HS, Chen L, Qin J, Wu XR. Xiong H, et al. Among authors: chang xz. Zhonghua Er Ke Za Zhi. 2006 Dec;44(12):918-23. Zhonghua Er Ke Za Zhi. 2006. PMID: 17254461 Chinese.
[Clinical characteristics of cases with leukoencephalopathy with vanishing white matter].
Wu Y, Jiang YW, Qin J, Xiao JX, Wang JM, Yang YL, Zhang YH, Chang XZ, Lin Q, Wu XR. Wu Y, et al. Among authors: chang xz. Zhonghua Er Ke Za Zhi. 2007 Feb;45(2):115-20. Zhonghua Er Ke Za Zhi. 2007. PMID: 17456339 Chinese.
[Leigh syndrome due to pyruvate dehydrogenase E1 alpha subunit gene mutation: a complicated and difficult case study].
Zhang Y, Sun F, Yang YL, Chang XZ, Qi Y, Qi ZY, Xiao JX, Qin J, Wu XR. Zhang Y, et al. Among authors: chang xz. Zhongguo Dang Dai Er Ke Za Zhi. 2007 Jun;9(3):216-9. Zhongguo Dang Dai Er Ke Za Zhi. 2007. PMID: 17582259 Chinese.
PDHA1 deficiency is an X-linked inherited metabolic disease, which shares various clinical manifestations and leads to difficult diagnosis. ...
PDHA1 deficiency is an X-linked inherited metabolic disease, which shares various clinical manifestations and leads to difficult diag …
[A case of Leigh syndrome associated with respiratory chain complex I deficiency due to mitochondrial gene 13513G>A mutation].
Wei XQ, Kong QP, Zhang Y, Yang YL, Chang XZ, Qi Y, Qi ZY, Xiao JX, Qin J, Wu XR. Wei XQ, et al. Among authors: chang xz. Zhongguo Dang Dai Er Ke Za Zhi. 2009 May;11(5):333-6. Zhongguo Dang Dai Er Ke Za Zhi. 2009. PMID: 19470250 Chinese.
Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient.
Xiong H, Wang S, Kobayashi K, Jiang Y, Wang J, Chang X, Yuan Y, Liu J, Toda T, Fukuyama Y, Wu X. Xiong H, et al. Among authors: chang x. Am J Med Genet A. 2009 Nov;149A(11):2403-8. doi: 10.1002/ajmg.a.33057. Am J Med Genet A. 2009. PMID: 19842201
[Clinical, molecular pathological and genetic analyses of a Chinese family with congenital muscular dystrophy type 1A].
Wang S, Xiong H, Luo J, Chang X, Yuan Y, Wu X. Wang S, et al. Among authors: chang x. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Feb;27(1):13-7. doi: 10.3760/cma.j.issn.1003-9406.2010.01.003. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010. PMID: 20140860 Chinese.
[Genotype, phenotype analysis and follow-up study on patients with Duchenne/Becker muscular dystrophy].
Zhang YZ, Xiong H, Wang XZ, Wang S, Luo J, Wang JM, Jiang YW, Chang XZ, Pan H, Qi JG, Li WZ, Yuan Y, Wu XR. Zhang YZ, et al. Among authors: chang xz. Beijing Da Xue Xue Bao Yi Xue Ban. 2010 Dec 18;42(6):661-6. Beijing Da Xue Xue Bao Yi Xue Ban. 2010. PMID: 21170096 Chinese.
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