Zhang X - Search Results

1

Phenotypic Characterization of Intellectual Disability Caused by MBOAT7 Mutation in Two Consanguineous Pakistani Families.

Sun L, Khan A, Zhang H, Han S, Habulieti X, Wang R, Zhang X. Sun L, et al. Among authors: zhang h, zhang x. Front Pediatr. 2020 Dec 1;8:585053. doi: 10.3389/fped.2020.585053. eCollection 2020. Front Pediatr. 2020. PMID: 33335874 Free PMC article.

2

[Identification of a novel KIT mutation in a Chinese family affected with piebaldism].

Wang R, Shu S, Zhang Y, Luo W, Zhang X. Wang R, et al. Among authors: zhang x, zhang y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Oct;33(5):637-40. doi: 10.3760/cma.j.issn.1003-9406.2016.05.012. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016. PMID: 27577211 Chinese.

3

Molecular analysis of 23 Pakistani families with autosomal recessive primary microcephaly using targeted next-generation sequencing.

Wang R, Khan A, Han S, Zhang X. Wang R, et al. Among authors: zhang x. J Hum Genet. 2017 Feb;62(2):299-304. doi: 10.1038/jhg.2016.128. Epub 2016 Oct 27. J Hum Genet. 2017. PMID: 27784895

4

Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.

Wang R, Han S, Khan A, Zhang X. Wang R, et al. Among authors: zhang x. Genet Test Mol Biomarkers. 2017 May;21(5):316-321. doi: 10.1089/gtmb.2016.0328. Epub 2017 Mar 10. Genet Test Mol Biomarkers. 2017. PMID: 28281779 Free PMC article.

5

Gross deletions in FBN1 results in variable phenotypes of Marfan syndrome.

Li J, Wu W, Lu C, Liu Y, Wang R, Si N, Liu F, Zhou J, Zhang S, Zhang X. Li J, et al. Among authors: zhang s, zhang x. Clin Chim Acta. 2017 Nov;474:54-59. doi: 10.1016/j.cca.2017.08.023. Epub 2017 Aug 24. Clin Chim Acta. 2017. PMID: 28842177

6

A novel homozygous missense mutation in BHLHA9 causes mesoaxial synostotic syndactyly with phalangeal reduction in a Pakistani family.

Khan A, Wang R, Han S, Ahmad W, Zhang X. Khan A, et al. Among authors: zhang x. Hum Genome Var. 2017 Dec 14;4:17054. doi: 10.1038/hgv.2017.54. eCollection 2017. Hum Genome Var. 2017. PMID: 29263794 Free PMC article.

7

Identification of a Novel Nonsense ASPM Mutation in a Large Consanguineous Pakistani Family Using Targeted Next-Generation Sequencing.

Khan A, Wang R, Han S, Ahmad W, Zhang X. Khan A, et al. Among authors: zhang x. Genet Test Mol Biomarkers. 2018 Mar;22(3):159-164. doi: 10.1089/gtmb.2017.0229. Epub 2018 Feb 12. Genet Test Mol Biomarkers. 2018. PMID: 29431480

8

Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis.

Wang R, Yang S, Xu M, Huang J, Liu H, Gu W, Zhang X. Wang R, et al. Among authors: zhang x. Sci China Life Sci. 2018 Aug;61(8):947-953. doi: 10.1007/s11427-017-9232-6. Epub 2018 Mar 19. Sci China Life Sci. 2018. PMID: 29572776

9

Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.

Li J, Leng Y, Han S, Yan L, Lu C, Luo Y, Zhang X, Cao L. Li J, et al. Among authors: zhang x. Orphanet J Rare Dis. 2018 Jun 18;13(1):94. doi: 10.1186/s13023-018-0828-0. Orphanet J Rare Dis. 2018. PMID: 29914532 Free PMC article.

10

Rare compound heterozygous mutations in gene MSH6 cause constitutive mismatch repair deficiency syndrome.

Ling C, Yang W, Sun H, Ge M, Ji Y, Han S, Zhang D, Zhang X. Ling C, et al. Among authors: zhang d, zhang x. Clin Case Rep. 2018 Jun 8;6(8):1448-1451. doi: 10.1002/ccr3.1564. eCollection 2018 Aug. Clin Case Rep. 2018. PMID: 30147880 Free PMC article.

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