Nayoung K D Kim
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Explore the profile of Nayoung K D Kim including associated specialties, affiliations and a list of published articles.
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62
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1180
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Recent Articles
11.
Kim H, Park H, Ryu H, Kim H, Lee H, Heo J, et al.
Sci Rep
. 2020 Apr;
10(1):6033.
PMID: 32238825
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
12.
Ahn Y, Lee C, Kim N, Park E, Kang H, Ha I, et al.
J Clin Med
. 2020 Mar;
9(3).
PMID: 32164334
Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease in children. The search for genetic causes of CAKUT has led to...
13.
Kim H, Kim A, Kim N, Ahn S, Sung S, Park W, et al.
Neonatology
. 2020 Mar;
117(3):374-379.
PMID: 32126561
CHARGE syndrome has a clinically broad spectrum of phenotypes, including partial or atypical type. CHD7 mutation is related to CHARGE syndrome that shows various phenotypes according to the CHD7 variant....
14.
Oh D, Matsumoto Y, Kitajiri S, Kim N, Kim M, Kim A, et al.
Hum Mutat
. 2020 Jan;
41(5):913-920.
PMID: 31944473
DNA polymerase δ, whose catalytic subunit is encoded by POLD1, is responsible for synthesizing the lagging strand of DNA. Single heterozygous POLD1 mutations in domains with polymerase and exonuclease activities...
15.
Shin H, Kim N, Yun J, Lee B, Kyung S, Lee K, et al.
J Mol Diagn
. 2019 Dec;
22(3):304-318.
PMID: 31881333
Accurate detection of genomic fusions by high-throughput sequencing in clinical samples with inadequate tumor purity and formalin-fixed, paraffin-embedded tissue is an essential task in precise oncology. We developed the fusion...
16.
Lee J, Kim N, Lee S, Cho H, Ma Y, Ju H, et al.
PLoS One
. 2019 Nov;
14(11):e0224227.
PMID: 31747416
Advances in genomic technologies and the development of targeted therapeutics are making the use of precision medicine increasingly possible. In this study, we explored whether precision medicine can be applied...
17.
Kim H, Park H, Ryu H, Kim H, Lee H, Heo J, et al.
Sci Rep
. 2019 Nov;
9(1):16952.
PMID: 31740684
Autosomal dominant polycystic kidney disease (ADPKD) is one of the main causes of end-stage renal disease (ESRD). Genetic information is of the utmost importance in understanding pathogenesis of ADPKD. Therefore,...
18.
Kim B, Ueyama T, Miyoshi T, Lee S, Han J, Park H, et al.
J Med Genet
. 2019 Sep;
56(12):818-827.
PMID: 31473629
Background: Diaphanous-related formin 1 (DIA1), which assembles the unbranched actin microfilament and microtubule cytoskeleton, is encoded by . Constitutive activation by the disruption of autoinhibitory interactions between the N-terminal diaphanous...
19.
Lee J, Kim S, Kim K, Lee H, Kozarewa I, Mortimer P, et al.
Cancer Discov
. 2019 Jul;
9(10):1388-1405.
PMID: 31315834
The VIKTORY (targeted agent eValuation In gastric cancer basket KORea) trial was designed to classify patients with metastatic gastric cancer based on clinical sequencing and focused on eight different biomarker...
20.
Ahn J, Kim A, Kim N, Park W, Kim J, Kim M, et al.
J Mov Disord
. 2019 Jun;
12(2):120-124.
PMID: 31158945
Objective: The aim of this study was to investigate the efficacy of globus pallidus interna deep brain stimulation (GPi-DBS) for treating dystonia due to the GNAL mutation. Methods: We provide...