Fan Y - Search Results

1

De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.

Yu Y, Yao R, Wang L, Fan Y, Huang X, Hirschhorn J, Dauber A, Shen Y. Yu Y, et al. Among authors: fan y. BMC Genomics. 2015 Sep 16;16(1):701. doi: 10.1186/s12864-015-1898-1. BMC Genomics. 2015. PMID: 26376624 Free PMC article.

2

Exonic deletions of AUTS2 in Chinese patients with developmental delay and intellectual disability.

Fan Y, Qiu W, Wang L, Gu X, Yu Y. Fan Y, et al. Am J Med Genet A. 2016 Feb;170A(2):515-522. doi: 10.1002/ajmg.a.37454. Epub 2015 Nov 6. Am J Med Genet A. 2016. PMID: 26545289

3

Copy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarray.

Hu G, Fan Y, Wang L, Yao RE, Huang X, Shen Y, Yu Y, Gu X. Hu G, et al. Among authors: fan y. Mol Cytogenet. 2016 Feb 16;9:16. doi: 10.1186/s13039-016-0225-0. eCollection 2016. Mol Cytogenet. 2016. PMID: 26884814 Free PMC article.

4

Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.

Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, Wang L, Fan Y, Gu X, Yu Y. Sun Y, et al. Among authors: fan y. Am J Med Genet A. 2017 Feb;173(2):510-514. doi: 10.1002/ajmg.a.38025. Epub 2016 Oct 19. Am J Med Genet A. 2017. PMID: 27759909 Review.

5

Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development.

Fan Y, Zhang X, Wang L, Wang R, Huang Z, Sun Y, Yao R, Huang X, Ye J, Han L, Qiu W, Zhang H, Liang L, Gu X, Yu Y. Fan Y, et al. Sci Rep. 2017 Mar 15;7:44536. doi: 10.1038/srep44536. Sci Rep. 2017. PMID: 28295047 Free PMC article.

6

Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis IIIB.

Zeng Q, Fan Y, Wang L, Huang Z, Gu X, Yu Y. Zeng Q, et al. Among authors: fan y. J Pediatr Endocrinol Metab. 2017 Apr 1;30(4):463-469. doi: 10.1515/jpem-2016-0333. J Pediatr Endocrinol Metab. 2017. PMID: 28306536

7

Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.

Xu S, Fan Y, Sun Y, Wang L, Gu X, Yu Y. Xu S, et al. Among authors: fan y. BMC Med Genomics. 2017 Oct 30;10(1):62. doi: 10.1186/s12920-017-0298-6. BMC Med Genomics. 2017. PMID: 29084544 Free PMC article.

8

Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population.

Wang R, Shen N, Ye J, Han L, Qiu W, Zhang H, Liang L, Sun Y, Fan Y, Wang L, Wang Y, Gong Z, Liu H, Wang J, Yan H, Blau N, Gu X, Yu Y. Wang R, et al. Among authors: fan y. Clin Chim Acta. 2018 Jun;481:132-138. doi: 10.1016/j.cca.2018.02.035. Epub 2018 Feb 28. Clin Chim Acta. 2018. PMID: 29499199

9

Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions.

Fan Y, Wu Y, Wang L, Wang Y, Gong Z, Qiu W, Wang J, Zhang H, Ji X, Ye J, Han L, Jin X, Shen Y, Li F, Xiao B, Liang L, Zhang X, Liu X, Gu X, Yu Y. Fan Y, et al. BMC Med Genomics. 2018 May 24;11(1):49. doi: 10.1186/s12920-018-0368-4. BMC Med Genomics. 2018. PMID: 29793483 Free PMC article.

10

[Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia].

Fang D, Liang LL, Qiu WJ, Fan YJ, Sun Y, Yan H, Yu YG, Gu XF. Fang D, et al. Among authors: fan yj. Zhonghua Er Ke Za Zhi. 2018 Jun 2;56(6):435-439. doi: 10.3760/cma.j.issn.0578-1310.2018.06.006. Zhonghua Er Ke Za Zhi. 2018. PMID: 29886606 Chinese.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

20,216 results

Search Page

Filters