Zhao X - Search Results

1

[Genetic testing and prenatal diagnosis for a Chinese pedigree affected with mitochondrial DNA depletion syndrome due to variant of MPV17 gene].

Zhao G, Zhao X, Zhao X, Liu L, Wang C, Kong X. Zhao G, et al. Among authors: zhao x. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Oct 10;39(10):1085-1088. doi: 10.3760/cma.j.cn511374-20210718-00604. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 36184088 Chinese.

2

[Studies on the ion exchange fiber by infrared spectrum].

Zhang G, Wang Y, Zhao X, Lin K, Yuan S, Zhao G. Zhang G, et al. Among authors: zhao x, zhao g. Guang Pu Xue Yu Guang Pu Fen Xi. 2000 Dec;20(6):817-8. Guang Pu Xue Yu Guang Pu Fen Xi. 2000. PMID: 12938479 Chinese.

3

Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique.

Zhao X, Chen C, Wei Y, Zhao G, Liu L, Wang C, Zhang J, Kong X. Zhao X, et al. Among authors: zhao g. Mol Genet Genomic Med. 2019 Jun;7(6):e653. doi: 10.1002/mgg3.653. Epub 2019 Apr 9. Mol Genet Genomic Med. 2019. PMID: 30968591 Free PMC article.

4

Rapid prenatal diagnosis of Facioscapulohumeral Muscular Dystrophy 1 by combined Bionano optical mapping and karyomapping.

Zheng Y, Kong L, Xu H, Lu Y, Zhao X, Yang Y, Yu G, Li P, Liang F, Jin H, Kong X. Zheng Y, et al. Among authors: zhao x. Prenat Diagn. 2020 Feb;40(3):317-323. doi: 10.1002/pd.5607. Epub 2019 Dec 2. Prenat Diagn. 2020. PMID: 31711258 Free PMC article.

5

A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing.

Zhao G, Dai P, Gao S, Zhao X, Wang C, Liu L, Kong X. Zhao G, et al. Among authors: zhao x. Mol Cytogenet. 2019 Dec 21;12:53. doi: 10.1186/s13039-019-0464-y. eCollection 2019. Mol Cytogenet. 2019. PMID: 31890033 Free PMC article.

6

A novel PCDH19 missense mutation, c.812G>A (p.Gly271Asp), identified using whole-exome sequencing in a Chinese family with epilepsy female restricted mental retardation syndrome.

Zhao X, Wang Y, Mei S, Kong X. Zhao X, et al. Mol Genet Genomic Med. 2020 Jun;8(6):e1234. doi: 10.1002/mgg3.1234. Epub 2020 Apr 21. Mol Genet Genomic Med. 2020. PMID: 32314541 Free PMC article.

7

Mitochondrial DNA depletion syndrome in a newborn with Jaundice Caused by DGUOK mutation and complete uniparental disomy of chromosome 2.

Xia JK, Bai ZX, Zhao XC, Meng JJ, Chen C, Kong XD. Xia JK, et al. Pediatr Neonatol. 2020 Oct;61(5):558-560. doi: 10.1016/j.pedneo.2020.04.005. Epub 2020 Apr 15. Pediatr Neonatol. 2020. PMID: 32482602 Free article. No abstract available.

8

Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China.

Sun Y, Kong X, Zhao Z, Zhao X. Sun Y, et al. Among authors: zhao z, zhao x. BMC Med Genet. 2020 Jun 18;21(1):133. doi: 10.1186/s12881-020-01069-z. BMC Med Genet. 2020. PMID: 32552676 Free PMC article.

9

Identification of four novel mutations in the COL4A5 gene identified in Chinese patients with X-linked Alport syndrome.

Zhao X, Shang X, Chen C, Liu L, Wang C, Zhao G, Zhang J, Kong X. Zhao X, et al. Among authors: zhao g. Biomed Rep. 2020 Aug;13(2):4. doi: 10.3892/br.2020.1311. Epub 2020 Jun 9. Biomed Rep. 2020. PMID: 32607233 Free PMC article.

10

[Spectrum of pathological genetic variants among 405 Chinese pedigrees affected with oculocutaneous albinism].

Wang C, Chen C, Zhao X, Zhao G, Liu L, Kong X. Wang C, et al. Among authors: zhao x, zhao g. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Jul 10;37(7):725-730. doi: 10.3760/cma.j.issn.1003-9406.2020.07.006. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32619251 Chinese.

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