Wang H - Search Results

1

A novel splicing mutation in the SEDL gene causes spondyloepiphyseal dysplasia tarda in a large Chinese pedigree.

Wang H, Wu W, Xu Z, Xie J. Wang H, et al. Clin Chim Acta. 2013 Oct 21;425:30-3. doi: 10.1016/j.cca.2013.07.002. Epub 2013 Jul 19. Clin Chim Acta. 2013. PMID: 23876379

2

A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing.

Wang H, Sun Y, Wu W, Wei X, Lan Z, Xie J. Wang H, et al. Clin Chim Acta. 2013 Aug 23;423:62-5. doi: 10.1016/j.cca.2013.04.015. Epub 2013 Apr 24. Clin Chim Acta. 2013. PMID: 23726269

3

[A novel mutation of cartilage oligomeric matrix protein gene underlies multiple epiphyseal dysplasia].

Wang H, Xie J, Wu W, Xu Z, Luo F, Geng Q. Wang H, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Jun;30(3):322-5. doi: 10.3760/cma.j.issn.1003-9406.2013.03.016. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013. PMID: 23744324 Chinese.

4

Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family.

Wang Q, Zhang J, Wang H, Feng Q, Luo F, Xie J. Wang Q, et al. Among authors: wang h. J Hum Genet. 2019 Nov;64(11):1067-1073. doi: 10.1038/s10038-019-0651-z. Epub 2019 Aug 19. J Hum Genet. 2019. PMID: 31427716 Free PMC article.

5

UPD16 itself is not a cause of intrauterine growth restriction.

Wang H, Luo C, Liu Y, Li S, Jiang N, Zhang G, Xie J, Zhong M. Wang H, et al. Fetal Pediatr Pathol. 2018 Dec;37(6):452-464. doi: 10.1080/15513815.2018.1538275. Epub 2018 Nov 23. Fetal Pediatr Pathol. 2018. PMID: 30468402

6

De Novo Mutated TUBB2B Associated Pachygyria Diagnosed by Medical Exome Sequencing and Long-Range PCR.

Wang H, Li S, Li S, Jiang N, Guo J, Zhang W, Zhong M, Xie J. Wang H, et al. Fetal Pediatr Pathol. 2019 Feb;38(1):63-71. doi: 10.1080/15513815.2018.1538273. Epub 2018 Dec 26. Fetal Pediatr Pathol. 2019. PMID: 30585108

7

De Novo Paternal FBN1 Mutation Detected in Embryos Before Implantation.

Wang S, Niu Z, Wang H, Ma M, Zhang W, Fang Wang S, Wang J, Yan H, Liu Y, Duan N, Zhang X, Yao Y. Wang S, et al. Among authors: wang h, wang j. Med Sci Monit. 2017 Jun 26;23:3136-3146. doi: 10.12659/msm.904546. Med Sci Monit. 2017. PMID: 28650953 Free PMC article.

8

A novel factor X gene mutation Val (GTC) 384Ala (GCC) in a Chinese family resulting in congenital factor X deficiency.

Wang Y, Ma J, Liu X, Wang Y, Wang H, Wang L, Ding Q, Chu X, Hou M. Wang Y, et al. Among authors: wang h, wang l. Int J Clin Exp Med. 2015 Jun 15;8(6):10095-8. eCollection 2015. Int J Clin Exp Med. 2015. PMID: 26309706 Free PMC article.

9

Analysis of balanced reciprocal translocations in patients with subfertility using single-molecule optical mapping.

Wang H, Jia Z, Mao A, Xu B, Wang S, Wang L, Liu S, Zhang H, Zhang X, Yu T, Mu T, Xu M, Cram DS, Yao Y. Wang H, et al. Among authors: wang l, wang s. J Assist Reprod Genet. 2020 Mar;37(3):509-516. doi: 10.1007/s10815-020-01702-z. Epub 2020 Feb 5. J Assist Reprod Genet. 2020. PMID: 32026199 Free PMC article.

10

Decreased fragile histidine triad expression in colorectal cancer and its association with apoptosis inhibition.

Cao J, Chen XP, Li WL, Xia J, Du H, Tang WB, Wang H, Chen XW, Xiao HQ, Li YY. Cao J, et al. Among authors: wang h. World J Gastroenterol. 2007 Feb 21;13(7):1018-26. doi: 10.3748/wjg.v13.i7.1018. World J Gastroenterol. 2007. PMID: 17373735 Free PMC article.

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