Zhang Q - Search Results

1

Identification of a novel nonsense mutation of the neurotrophic tyrosine kinase receptor type 1 gene in two siblings with congenital insensitivity to pain with anhidrosis.

Wang T, Li H, Xiang J, Wei B, Zhang Q, Zhu Q, Liu M, Sun M, Li H. Wang T, et al. Among authors: zhang q. J Int Med Res. 2017 Apr;45(2):549-555. doi: 10.1177/0300060517691699. Epub 2017 Mar 27. J Int Med Res. 2017. PMID: 28345382 Free PMC article.

2

Whole exome sequencing aids the diagnosis of Simpson-Golabi-Behmel syndrome in two male fetuses.

Xiang J, Zhang Q, Song X, Liu Y, Li H, Li H, Wang T. Xiang J, et al. Among authors: zhang q. J Int Med Res. 2020 Jan;48(1):300060519859752. doi: 10.1177/0300060519859752. Epub 2019 Jul 15. J Int Med Res. 2020. PMID: 31304847 Free PMC article.

3

Two heterozygous mutations in the ERCC6 gene associated with Cockayne syndrome in a Chinese patient.

Zhang Q, Liu M, Liu Y, Tang H, Wang T, Li H, Xiang J. Zhang Q, et al. J Int Med Res. 2020 Feb;48(2):300060519877997. doi: 10.1177/0300060519877997. Epub 2019 Sep 26. J Int Med Res. 2020. PMID: 31558084 Free PMC article.

4

[Norrie disease caused by a c.361C>T missense variant of the NDP gene in a pedigree].

Yang F, Xiang J, Li H, Zhang Q. Yang F, et al. Among authors: zhang q. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Jan 10;37(1):25-27. doi: 10.3760/cma.j.issn.1003-9406.2020.01.007. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 31922590 Chinese.

5

Prenatal Diagnosis and Genetic Analysis of a Fetus with Joubert Syndrome.

Xiang J, Zhang L, Jiang W, Zhang Q, Wang T, Li H, Li H. Xiang J, et al. Among authors: zhang l, zhang q. Biomed Res Int. 2018 May 31;2018:7202168. doi: 10.1155/2018/7202168. eCollection 2018. Biomed Res Int. 2018. PMID: 29955609 Free PMC article.

6

[Whole exome sequencing analysis and prenatal diagnosis for a Chinese pedigree affected with microphthalmia].

Zhang Q, Xiang J, Yang F, Zhang W, Mao J, Liu Y, Li H. Zhang Q, et al. Among authors: zhang w. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Jan 10;38(1):56-58. doi: 10.3760/cma.j.cn511374-20190829-00438. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 33423259 Chinese.

7

[Genetic testing and prenatal diagnosis for a pedigree affected with tuberous sclerosis complex].

Huang C, Zhang Q, Xue Y, Li H, Wang T. Huang C, et al. Among authors: zhang q. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Feb 10;38(2):154-157. doi: 10.3760/cma.j.cn511374-20200331-00227. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 33565070 Chinese.

8

Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia.

Tang H, Zhang Q, Xiang J, Yin L, Wang J, Wang T. Tang H, et al. Among authors: zhang q. Front Genet. 2021 Mar 10;12:599863. doi: 10.3389/fgene.2021.599863. eCollection 2021. Front Genet. 2021. PMID: 33777089 Free PMC article.

9

Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.

Wang T, Ma J, Zhang Q, Gao A, Wang Q, Li H, Xiang J, Wang B. Wang T, et al. Among authors: zhang q. Front Genet. 2019 Oct 29;10:1052. doi: 10.3389/fgene.2019.01052. eCollection 2019. Front Genet. 2019. PMID: 31737040 Free PMC article.

10

[Prenatal diagnosis of a fetus with cleft lip and palate by using chromosomal microarray analysis].

Huang C, Song X, Zhang Q, Liu M, Mao J, Xiang J, Liu Y, Li H, Wang T. Huang C, et al. Among authors: zhang q. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Apr 10;37(4):471-474. doi: 10.3760/cma.j.issn.1003-9406.2020.04.027. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32219840 Chinese.

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