Lee S - Search Results

1

Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation.

Lee JS, Lee S, Lim BC, Kim KJ, Hwang YS, Choi M, Chae JH. Lee JS, et al. Among authors: lee s. Gene. 2015 Sep 15;569(2):318-22. doi: 10.1016/j.gene.2015.04.075. Epub 2015 Apr 30. Gene. 2015. PMID: 25936994

2

Abatacept alleviates severe autoimmune symptoms in a patient carrying a de novo variant in CTLA-4.

Lee S, Moon JS, Lee CR, Kim HE, Baek SM, Hwang S, Kang GH, Seo JK, Shin CH, Kang HJ, Ko JS, Park SG, Choi M. Lee S, et al. Among authors: lee cr. J Allergy Clin Immunol. 2016 Jan;137(1):327-330. doi: 10.1016/j.jaci.2015.08.036. Epub 2015 Oct 21. J Allergy Clin Immunol. 2016. PMID: 26478010 Free article. No abstract available.

3

The Role of TNF Superfamily Member 13 in the Progression of IgA Nephropathy.

Han SS, Yang SH, Choi M, Kim HR, Kim K, Lee S, Moon KC, Kim JY, Lee H, Lee JP, Jung JY, Kim S, Joo KW, Lim CS, Kang SW, Kim YS, Kim DK. Han SS, et al. Among authors: lee jp, lee h, lee s. J Am Soc Nephrol. 2016 Nov;27(11):3430-3439. doi: 10.1681/ASN.2015060677. Epub 2016 Apr 11. J Am Soc Nephrol. 2016. PMID: 27068226 Free PMC article.

4

Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.

Kim SY, Choi SA, Lee S, Lee JS, Hong CR, Lim BC, Kang HJ, Kim KJ, Park SH, Choi M, Chae JH. Kim SY, et al. Among authors: lee js, lee s. Am J Med Genet A. 2016 Nov;170(11):3023-3027. doi: 10.1002/ajmg.a.37846. Epub 2016 Jul 13. Am J Med Genet A. 2016. PMID: 27411168

5

Ultra-rare Disease and Genomics-Driven Precision Medicine.

Lee S, Choi M. Lee S, et al. Genomics Inform. 2016 Jun;14(2):42-5. doi: 10.5808/GI.2016.14.2.42. Epub 2016 Jun 30. Genomics Inform. 2016. PMID: 27445646 Free PMC article. Review.

6

eIF2B-related multisystem disorder in two sisters with atypical presentations.

Lee JS, Lee S, Choi M, Lim BC, Choi J, Kim KJ, Cheon JE, Kim IO, Chae JH. Lee JS, et al. Among authors: lee s. Eur J Paediatr Neurol. 2017 Mar;21(2):404-409. doi: 10.1016/j.ejpn.2016.07.010. Epub 2016 Jul 18. Eur J Paediatr Neurol. 2017. PMID: 28041799

7

Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population.

Lee S, Seo J, Park J, Nam JY, Choi A, Ignatius JS, Bjornson RD, Chae JH, Jang IJ, Lee S, Park WY, Baek D, Choi M. Lee S, et al. Sci Rep. 2017 Jun 27;7(1):4287. doi: 10.1038/s41598-017-04642-4. Sci Rep. 2017. PMID: 28655895 Free PMC article.

8

Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome.

Kang HG, Lee M, Lee KB, Hughes M, Kwon BS, Lee S, McNagny KM, Ahn YH, Ko JM, Ha IS, Choi M, Cheong HI. Kang HG, et al. Among authors: lee kb, lee m, lee s. Exp Mol Med. 2017 Dec 15;49(12):e414. doi: 10.1038/emm.2017.227. Exp Mol Med. 2017. PMID: 29244787 Free PMC article.

9

Familial cases of progressive myoclonic epilepsy caused by maternal somatic mosaicism of a recurrent KCNC1 p.Arg320His mutation.

Kim H, Lee S, Choi M, Kim H, Hwang H, Choi J, Chae JH, Kim KJ, Lim BC. Kim H, et al. Among authors: lee s. Brain Dev. 2018 May;40(5):429-432. doi: 10.1016/j.braindev.2018.01.006. Epub 2018 Feb 8. Brain Dev. 2018. PMID: 29428275

10

Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis.

Lee JS, Choi JM, Lee M, Kim SY, Lee S, Lim BC, Cheon JE, Kim IO, Kim KJ, Choi M, Seong MW, Chae JH. Lee JS, et al. Among authors: lee m, lee s. Brain Dev. 2018 May;40(5):383-390. doi: 10.1016/j.braindev.2018.01.009. Epub 2018 Feb 10. Brain Dev. 2018. PMID: 29439846

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

131,994 results

Search Page

Filters