Jin Y - Search Results

1

A novel Bruton's tyrosine kinase gene (BTK) missense mutation in a Chinese family with X-linked agammaglobulinemia.

Zheng B, Zhang Y, Jin Y, Yu H. Zheng B, et al. Among authors: jin y. BMC Pediatr. 2014 Oct 15;14:265. doi: 10.1186/1471-2431-14-265. BMC Pediatr. 2014. PMID: 25316352 Free PMC article.

2

Three novel mutations of the G6PC gene identified in Chinese patients with glycogen storage disease type Ia.

Zheng BX, Lin Q, Li M, Jin Y. Zheng BX, et al. Among authors: jin y. Eur J Pediatr. 2015 Jan;174(1):59-63. doi: 10.1007/s00431-014-2354-y. Epub 2014 Jul 1. Eur J Pediatr. 2015. PMID: 24980439 Free PMC article.

3

Eosinophilic colitis in a boy with a novel XIAP mutation: a case report.

Tang J, Zhou X, Wang L, Hu G, Zheng B, Wang C, Lu Y, Jin Y, Guo H, Liu Z. Tang J, et al. Among authors: jin y. BMC Pediatr. 2020 Apr 18;20(1):171. doi: 10.1186/s12887-020-02075-z. BMC Pediatr. 2020. PMID: 32305064 Free PMC article.

4

Analysis of STK11 gene variant in five Chinese patients with Peutz-Jeghers syndrome.

Zheng B, Pan J, Wang Y, Li M, Lian M, Zheng Y, Jin Y. Zheng B, et al. Among authors: jin y. Dig Dis Sci. 2013 Oct;58(10):2868-72. doi: 10.1007/s10620-013-2737-3. Epub 2013 Jul 27. Dig Dis Sci. 2013. PMID: 23892522

5

Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome.

Zheng B, Pan J, Jin Y, Wang C, Liu Z. Zheng B, et al. Among authors: jin y. Mol Med Rep. 2016 Sep;14(3):2107-10. doi: 10.3892/mmr.2016.5503. Epub 2016 Jul 11. Mol Med Rep. 2016. PMID: 27431780

6

A Clinical and Molecular Genetic Study in 11 Chinese Children With Peutz-Jeghers Syndrome.

Zheng B, Wang C, Jia Z, Liu Z, Li M, Jin Y, Pan J. Zheng B, et al. Among authors: jin y. J Pediatr Gastroenterol Nutr. 2017 Apr;64(4):559-564. doi: 10.1097/MPG.0000000000001316. J Pediatr Gastroenterol Nutr. 2017. PMID: 27467201

7

A novel missense mutation Q495K of SLC26A3 gene identified in a Chinese child with congenital chloride-losing diarrhoea.

Guo H, Zheng BX, Jin Y. Guo H, et al. Among authors: jin y. Acta Paediatr. 2017 Jun;106(6):1004-1005. doi: 10.1111/apa.13811. Epub 2017 Apr 19. Acta Paediatr. 2017. PMID: 28258656 No abstract available.

8

Presumed missense and synonymous mutations in ATP7B gene cause exon skipping in Wilson disease.

Wang C, Zhou W, Huang Y, Yin H, Jin Y, Jia Z, Zhang A, Liu Z, Zheng B. Wang C, et al. Among authors: jin y. Liver Int. 2018 Aug;38(8):1504-1513. doi: 10.1111/liv.13754. Epub 2018 May 2. Liver Int. 2018. PMID: 29637721

9

The application research of xTAG GPP multiplex PCR in the diagnosis of persistent and chronic diarrhea in children.

Wang C, Zhou X, Zhu M, Yin H, Tang J, Huang Y, Zheng B, Jin Y, Liu Z. Wang C, et al. Among authors: jin y. BMC Pediatr. 2020 Jun 26;20(1):309. doi: 10.1186/s12887-020-02206-6. BMC Pediatr. 2020. PMID: 32590971 Free PMC article.

10

Novel Compound Heterozygous TMPRSS15 Gene Variants Cause Enterokinase Deficiency.

Wang L, Zhang D, Fan C, Zhou X, Liu Z, Zheng B, Zhu L, Jin Y. Wang L, et al. Among authors: jin y. Front Genet. 2020 Sep 11;11:538778. doi: 10.3389/fgene.2020.538778. eCollection 2020. Front Genet. 2020. PMID: 33061943 Free PMC article.

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