Zheng Y - Search Results

1

A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family.

Tian Q, Li Y, Kousar R, Guo H, Peng F, Zheng Y, Yang X, Long Z, Tian R, Xia K, Lin H, Pan Q. Tian Q, et al. Among authors: zheng y. BMC Med Genet. 2017 Jan 7;18(1):2. doi: 10.1186/s12881-016-0360-9. BMC Med Genet. 2017. PMID: 28061824 Free PMC article.

2

Whole exome sequencing identifies a novel EMD mutation in a Chinese family with dilated cardiomyopathy.

Zhang M, Chen J, Si D, Zheng Y, Jiao H, Feng Z, Hu Z, Duan R. Zhang M, et al. Among authors: zheng y. BMC Med Genet. 2014 Jul 5;15:77. doi: 10.1186/1471-2350-15-77. BMC Med Genet. 2014. PMID: 24997722 Free PMC article.

3

Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia.

Guo H, Tong P, Liu Y, Xia L, Wang T, Tian Q, Li Y, Hu Y, Zheng Y, Jin X, Li Y, Xiong W, Tang B, Feng Y, Li J, Pan Q, Hu Z, Xia K. Guo H, et al. Among authors: zheng y. Genet Med. 2015 Apr;17(4):300-6. doi: 10.1038/gim.2015.28. Epub 2015 Mar 5. Genet Med. 2015. PMID: 25741866 Free article.

4

GLA variation p.E66Q identified as the genetic etiology of Fabry disease using exome sequencing.

Peng H, Xu X, Zhang L, Zhang X, Peng H, Zheng Y, Luo S, Guo H, Xia K, Li J, Yao H, Hu Z. Peng H, et al. Among authors: zheng y. Gene. 2016 Jan 10;575(2 Pt 1):363-7. doi: 10.1016/j.gene.2015.09.088. Epub 2015 Oct 9. Gene. 2016. PMID: 26456105 Clinical Trial.

5

A novel de novo POGZ mutation in a patient with intellectual disability.

Tan B, Zou Y, Zhang Y, Zhang R, Ou J, Shen Y, Zhao J, Luo X, Guo J, Zeng L, Hu Y, Zheng Y, Pan Q, Liang D, Wu L. Tan B, et al. Among authors: zheng y. J Hum Genet. 2016 Apr;61(4):357-9. doi: 10.1038/jhg.2015.156. Epub 2016 Jan 14. J Hum Genet. 2016. PMID: 26763879

6

AKAP2 identified as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis.

Li W, Li Y, Zhang L, Guo H, Tian D, Li Y, Peng Y, Zheng Y, Dai Y, Xia K, Lan X, Wang B, Hu Z. Li W, et al. Among authors: zheng y. J Med Genet. 2016 Jul;53(7):488-93. doi: 10.1136/jmedgenet-2015-103684. Epub 2016 Mar 17. J Med Genet. 2016. PMID: 26989089 Free PMC article.

7

Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-Sjögren syndrome and Dandy-Walker syndrome.

Gai N, Jiang C, Zou YY, Zheng Y, Liang DS, Wu LQ. Gai N, et al. Among authors: zheng y. Clin Chim Acta. 2016 Jul 1;458:1-4. doi: 10.1016/j.cca.2016.04.018. Epub 2016 Apr 19. Clin Chim Acta. 2016. PMID: 27106665

8

WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.

Jiang C, Gai N, Zou Y, Zheng Y, Ma R, Wei X, Liang D, Wu L. Jiang C, et al. Among authors: zheng y. Clin Chim Acta. 2017 Jan;464:24-29. doi: 10.1016/j.cca.2016.10.029. Epub 2016 Oct 28. Clin Chim Acta. 2017. PMID: 27983999

9

Identification of ANKDD1B variants in an ankylosing spondylitis pedigree and a sporadic patient.

Tan Z, Zeng H, Xu Z, Tian Q, Gao X, Zhou C, Zheng Y, Wang J, Ling G, Wang B, Yang Y, Ma L. Tan Z, et al. Among authors: zheng y. BMC Med Genet. 2018 Jul 5;19(1):111. doi: 10.1186/s12881-018-0622-9. BMC Med Genet. 2018. PMID: 29976160 Free PMC article.

10

A novel variation of SERPINC1 caused deep venous thrombosis in a Chinese family: A case report.

Peng Y, Wang T, Zheng Y, Lian A, Zhang D, Xiong Z, Hu Z, Xia K, Shu C. Peng Y, et al. Among authors: zheng y. Medicine (Baltimore). 2019 Jan;98(1):e13999. doi: 10.1097/MD.0000000000013999. Medicine (Baltimore). 2019. PMID: 30608445 Free PMC article.

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