Han S - Search Results

1

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.

Khan A, Wang R, Han S, Umair M, Abbas S, Khan MI, Alshabeeb MA, Alfadhel M, Zhang X. Khan A, et al. Among authors: han s. BMC Med Genet. 2019 Oct 29;20(1):166. doi: 10.1186/s12881-019-0895-7. BMC Med Genet. 2019. PMID: 31664938 Free PMC article.

2

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: han s. 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

3

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: han s. 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.

4

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: han s. 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.

5

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: han s. 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

6

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: han s. 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.

7

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: han s. 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.

8

A novel DLL4 missense mutation in a Chinese patient with Adams-Oliver syndrome.

Yu X, Wang RR, Han SR, Bai X, Habulieti X, Sun Y, Sun LW, Zhang H, Khan A, Zhang X. Yu X, et al. Chin Med J (Engl). 2019 Jul 20;132(14):1755-1757. doi: 10.1097/CM9.0000000000000316. Chin Med J (Engl). 2019. PMID: 31261205 Free PMC article. No abstract available.

9

Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort.

Khan A, Han S, Wang R, Ansar M, Ahmad W, Zhang X. Khan A, et al. Among authors: han s. Mol Genet Genomic Med. 2019 Sep;7(9):e917. doi: 10.1002/mgg3.917. Epub 2019 Aug 6. Mol Genet Genomic Med. 2019. PMID: 31389194 Free PMC article. Clinical Trial.

10

Novel Compound Heterozygous Mutations in TTI2 Cause Syndromic Intellectual Disability in a Chinese Family.

Wang R, Han S, Liu H, Khan A, Xiaerbati H, Yu X, Huang J, Zhang X. Wang R, et al. Among authors: han s. Front Genet. 2019 Oct 29;10:1060. doi: 10.3389/fgene.2019.01060. eCollection 2019. Front Genet. 2019. PMID: 31737043 Free PMC article.

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