Kim N - Search Results

1

Korean clinical practice guidelines for the diagnosis of hereditary hemolytic anemia.

Chueh HW, Hwang SM, Shim YJ, Lee JM, Park HS, Lee JH, Nam Y, Kim N, Jung HL, Choi HS; Korean RBC Disorder Working Party. Chueh HW, et al. Among authors: kim n. Blood Res. 2022 Jun 30;57(2):86-94. doi: 10.5045/br.2022.2021224. Epub 2022 May 20. Blood Res. 2022. PMID: 35593002 Free PMC article. Review.

2

Molecular genetic testing enabled the diagnosis of otherwise undiagnosable cases of pyruvate kinase deficiency.

Chueh HW, Kim N. Chueh HW, et al. Among authors: kim n. Pediatr Hematol Oncol. 2022 Mar;39(2):166-173. doi: 10.1080/08880018.2021.1950877. Epub 2021 Jul 19. Pediatr Hematol Oncol. 2022. PMID: 34281465

3

A pathogenic PHEX variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets.

Jeong IH, Yoo JH, Kim N. Jeong IH, et al. Among authors: kim n. Ann Pediatr Endocrinol Metab. 2021 Jun;26(2):130-133. doi: 10.6065/apem.2040186.093. Epub 2021 Jun 30. Ann Pediatr Endocrinol Metab. 2021. PMID: 34218635 Free PMC article.

4

Current Issues, Challenges, and Future Perspectives of Genetic Counseling in Korea.

Kim N, Kong SY, Yoo J, Kim DH, Seo SH, Kim J. Kim N, et al. Among authors: kim dh, kim j. Ann Lab Med. 2022 May 1;42(3):314-320. doi: 10.3343/alm.2022.42.3.314. Ann Lab Med. 2022. PMID: 34907101 Free PMC article. Review.

5

Recovery Rates of Non-Tuberculous Mycobacteria from Clinical Specimens Are Increasing in Korean Tertiary-Care Hospitals.

Kim N, Yi J, Chang CL. Kim N, et al. J Korean Med Sci. 2017 Aug;32(8):1263-1267. doi: 10.3346/jkms.2017.32.8.1263. J Korean Med Sci. 2017. PMID: 28665061 Free PMC article.

6

Missense Variant c.3301C>T (p.R1101W) in von Willebrand Factor A Sequence in a Patient with Recessive Dystrophic Epidermolysis Bullosa Pruriginosa with Compound Heterozygous COL7A1 Variants.

Kwon HJ, Yoo DW, Yoon JH, Kim N, Kim KH. Kwon HJ, et al. Among authors: kim n, kim kh. Ann Dermatol. 2023 Nov;35(Suppl 2):S195-S200. doi: 10.5021/ad.21.176. Ann Dermatol. 2023. PMID: 38061702 Free PMC article.

7

A Novel KCNA1 Mutation in an Episodic Ataxia Type 1 Patient with Asterixis and Falls.

Lee GB, Kim GY, Jeong IH, Kim N, Kim JW. Lee GB, et al. Among authors: kim gy, kim n, kim jw. J Clin Neurol. 2021 Apr;17(2):333-335. doi: 10.3988/jcn.2021.17.2.333. J Clin Neurol. 2021. PMID: 33835760 Free PMC article. No abstract available.

8

Current Status of Molecular Diagnosis of Hereditary Hemolytic Anemia in Korea.

Chueh HW, Shim YJ, Jung HL, Kim N, Hwang SM, Kim M, Choi HS; Red Blood Cell Disorder Working Party of the Korean Society of Hematology. Chueh HW, et al. Among authors: kim n. J Korean Med Sci. 2024 May 13;39(18):e162. doi: 10.3346/jkms.2024.39.e162. J Korean Med Sci. 2024. PMID: 38742293 Review.

9

Differences in the risk of clinical failure between thiopurine and methotrexate in bio-naïve patients with Crohn's disease: a Korean nationwide population-based study.

Jun YK, Ji E, Yang HR, Choi Y, Shin CM, Park YS, Kim N, Lee DH, Yoon H. Jun YK, et al. Among authors: kim n. Therap Adv Gastroenterol. 2024 May 12;17:17562848241248321. doi: 10.1177/17562848241248321. eCollection 2024. Therap Adv Gastroenterol. 2024. PMID: 38741927 Free PMC article.

10

Novel role of MHC class II transactivator in hepatitis B virus replication and viral counteraction.

Dezhbord M, Kim SH, Park S, Lee DR, Kim N, Won J, Lee AR, Kim DS, Kim KH. Dezhbord M, et al. Among authors: kim n. Clin Mol Hepatol. 2024 May 14. doi: 10.3350/cmh.2024.0060. Online ahead of print. Clin Mol Hepatol. 2024. PMID: 38741238

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