Lin Y - Search Results

1

Early prenatal diagnosis of lysosomal storage disorders by enzymatic and molecular analysis.

Li D, Lin Y, Huang Y, Zhang W, Jiang M, Li X, Zhao X, Sheng H, Yin X, Su X, Shao Y, Liu Z, Li D, Li F, Liao C, Liu L. Li D, et al. Among authors: lin y. Prenat Diagn. 2018 Sep;38(10):779-787. doi: 10.1002/pd.5329. Epub 2018 Jul 17. Prenat Diagn. 2018. PMID: 29966168

2

Dopa-responsive dystonia in Chinese patients: Including a novel heterozygous mutation in the GCH1 gene with an intermediate phenotype and one case of prenatal diagnosis.

Zhang W, Zhou Z, Li X, Huang Y, Li T, Lin Y, Shao Y, Hu H, Liu H, Liu L. Zhang W, et al. Among authors: lin y. Neurosci Lett. 2017 Mar 22;644:48-54. doi: 10.1016/j.neulet.2017.01.019. Epub 2017 Jan 10. Neurosci Lett. 2017. PMID: 28087438

3

Brain abnormalities in fucosidosis: transplantation or supportive therapy?

Jiang M, Liu S, Jiang H, Lin Y, Shao Y, Hu H, Zhao X, Liu H, Huang Y, Liu L. Jiang M, et al. Among authors: lin y. Metab Brain Dis. 2017 Apr;32(2):317-320. doi: 10.1007/s11011-017-9968-5. Epub 2017 Feb 25. Metab Brain Dis. 2017. PMID: 28238202

4

Somatic and germline FOXP3 mosaicism in the mother of a boy with IPEX syndrome.

Lin Y, Xu A, Zeng C, Cheng J, Li N, Niu H, Liu L, Li X. Lin Y, et al. Eur J Immunol. 2018 May;48(5):885-887. doi: 10.1002/eji.201747445. Epub 2018 Feb 23. Eur J Immunol. 2018. PMID: 29400909 Free article.

5

Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY).

Li X, Ting TH, Sheng H, Liang CL, Shao Y, Jiang M, Xu A, Lin Y, Liu L. Li X, et al. Among authors: lin y. BMC Pediatr. 2018 Mar 6;18(1):101. doi: 10.1186/s12887-018-1060-8. BMC Pediatr. 2018. PMID: 29510678 Free PMC article.

6

Corrigendum for Li D, Lin Y, Huang Y, et al (2018) https://doi.org/10.1002/pd.5329.

Li D, Lin Y, Huang Y, Zhang W, Jiang M, Li X, Zhao X, Sheng H, Yin X, Su X, Shao Y, Liu Z, Li D, Li F, Liao C, Liu L. Li D, et al. Among authors: lin y. Prenat Diagn. 2019 Jan;39(1):57. doi: 10.1002/pd.5387. Prenat Diagn. 2019. PMID: 30632198 No abstract available.

7

Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants.

Zhang W, Xie T, Sheng H, Shao Y, Lin Y, Jiang M, Xu A, Su X, Liu Z, Zhao X, Liu L, Huang Y. Zhang W, et al. Among authors: lin y. Clin Chim Acta. 2019 Apr;491:114-120. doi: 10.1016/j.cca.2019.01.009. Epub 2019 Jan 11. Clin Chim Acta. 2019. PMID: 30639582

8

A novel GTPCH deficiency mouse model exhibiting tetrahydrobiopterin-related metabolic disturbance and infancy-onset motor impairments.

Jiang X, Liu H, Shao Y, Peng M, Zhang W, Li D, Li X, Cai Y, Tan T, Lu X, Xu J, Su X, Lin Y, Liu Z, Huang Y, Zeng C, Tang YP, Liu L. Jiang X, et al. Among authors: lin y. Metabolism. 2019 May;94:96-104. doi: 10.1016/j.metabol.2019.02.001. Epub 2019 Feb 10. Metabolism. 2019. PMID: 30742839

9

Clinical features, molecular characteristics, and treatments of a Chinese girl with sitosterolemia: A case report and literature review.

Su X, Shao Y, Lin Y, Zhao X, Zhang W, Jiang M, Huang Y, Zeng C, Liu L, Li X. Su X, et al. Among authors: lin y. J Clin Lipidol. 2019 Mar-Apr;13(2):246-250. doi: 10.1016/j.jacl.2019.01.007. Epub 2019 Jan 22. J Clin Lipidol. 2019. PMID: 30782472

10

A novel homozygous splice-site variant of NCAPD2 gene identified in two siblings with primary microcephaly: The second case report.

Lin Y, Zeng C, Lu Z, Lin R, Liu L. Lin Y, et al. Among authors: lin r. Clin Genet. 2019 Jul;96(1):98-101. doi: 10.1111/cge.13559. Epub 2019 May 23. Clin Genet. 2019. PMID: 31056748

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

51,885 results

Search Page

Filters