Si N - Search Results

1

Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease.

Li J, Lu C, Wu W, Liu Y, Wang R, Si N, Meng X, Zhang S, Zhang X. Li J, et al. Among authors: si n. Sci China Life Sci. 2019 Dec;62(12):1630-1637. doi: 10.1007/s11427-018-9491-8. Epub 2019 May 15. Sci China Life Sci. 2019. PMID: 31098894

2

[Identification of a novel TP53 germline mutation in one child with adrenocortical carcinoma].

Si N, Sun M, Lu CX, Liu YS, Qi Z, Yang W, Zhao XL, Zhang X. Si N, et al. Zhonghua Yi Xue Za Zhi. 2009 May 26;89(20):1402-4. Zhonghua Yi Xue Za Zhi. 2009. PMID: 19671334 Chinese.

3

Novel TRPM6 mutations in familial hypomagnesemia with secondary hypocalcemia.

Zhao Z, Pei Y, Huang X, Liu Y, Yang W, Sun J, Si N, Xing X, Li M, Wang O, Jiang Y, Zhang X, Xia W. Zhao Z, et al. Among authors: si n. Am J Nephrol. 2013;37(6):541-8. doi: 10.1159/000350886. Epub 2013 May 16. Am J Nephrol. 2013. PMID: 23689795

4

Quick genetic screening using targeted next-generation sequencing in patients with tuberous sclerosis.

Liu Q, Huang Y, Zhang M, Wang LQ, Guo XN, Si N, Qi Z, Zhou XQ, Cui LY. Liu Q, et al. Among authors: si n. J Child Neurol. 2015 Apr;30(5):610-4. doi: 10.1177/0883073814531332. Epub 2014 Apr 30. J Child Neurol. 2015. PMID: 24789117

5

Identification of a novel mutation in solute carrier family 29, member 3 in a Chinese patient with H syndrome.

Liu JW, Si N, Wang LQ, Shen T, Zeng XJ, Zhang X, Ma DL. Liu JW, et al. Among authors: si n. Chin Med J (Engl). 2015 May 20;128(10):1336-9. doi: 10.4103/0366-6999.156778. Chin Med J (Engl). 2015. PMID: 25963354 Free PMC article.

6

Steroid sulfatase and filaggrin mutations in a boy with severe ichthyosis, elevated serum IgE level and moyamoya syndrome.

Zhang Q, Si N, Liu Y, Zhang D, Wang R, Zhang Y, Wang S, Liu X, Deng X, Ma Y, Ge P, Zhao J, Zhang X. Zhang Q, et al. Among authors: si n. Gene. 2017 Sep 10;628:103-108. doi: 10.1016/j.gene.2017.07.030. Epub 2017 Jul 12. Gene. 2017. PMID: 28710038

7

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: si n. 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

8

Genetic Testing of the mucin 1 gene-Variable Number Tandem Repeat Single Cytosine Insertion Mutation in a Chinese Family with Medullary Cystic Kidney Disease.

Si N, Zheng K, Ma J, Meng XL, Li XM, Zhang X. Si N, et al. Chin Med J (Engl). 2017 Oct 20;130(20):2459-2464. doi: 10.4103/0366-6999.216408. Chin Med J (Engl). 2017. PMID: 29052568 Free PMC article.

9

17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype.

Shen Y, Si N, Liu Z, Liu F, Meng X, Zhang Y, Zhang X. Shen Y, et al. Among authors: si n. Orphanet J Rare Dis. 2018 Jul 3;13(1):106. doi: 10.1186/s13023-018-0838-y. Orphanet J Rare Dis. 2018. PMID: 29970136 Free PMC article.

10

Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies.

Lu C, Wu W, Liu F, Yang K, Li J, Liu Y, Wang R, Si N, Gao P, Liu Y, Zhang S, Zhang X. Lu C, et al. Among authors: si n. J Transl Med. 2018 Aug 30;16(1):241. doi: 10.1186/s12967-018-1605-5. J Transl Med. 2018. PMID: 30165862 Free PMC article.

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