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Showing results 1 to 25 of 25

Issue DateTitle / Author(s) / CitationFileAltmetrics
2017-05
CONSECUTIVE ANALYSIS OF MUTATION SPECTRUM IN THE DYSTROPHIN GENE OF 507 KOREAN BOYS WITH DUCHENNE/BECKER MUSCULAR DYSTROPHY IN A SINGLE CENTER
DOI
2019-12
Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance
DOI
2020-02
Virus isolation from the first patient with SARS-CoV-2 in Korea
DOI
2020-04
Direct Haplotyping-Based Noninvasive Prenatal Test for Myotonic Dystrophy Type 1 with Large CTG Expansion
DOI
2020-07
In vitro activity of lopinavir/ritonavir and hydroxychloroquine against severe acute respiratory syndrome coronavirus 2 at concentrations achievable by usual doses
DOI
2020-07
A cluster of tertiary transmissions of 2019 novel coronavirus (SARS-CoV-2) in the community from infectors with common cold symptoms
DOI
2020-11
Compassionate use of hzVSF-v13 in two patients with severe COVID-19
DOI
2020-12
In-depth blood proteome profiling analysis revealed distinct functional characteristics of plasma proteins between severe and non-severe COVID-19 patients
DOI
2021-01
Stereotypic neutralizing V-H antibodies against SARS-CoV-2 spike protein receptor binding domain in patients with COVID-19 and healthy individuals
DOI
2021-01
Communication: Comparison of Respiratory Specimens for the Detection of SARS-CoV-2
2021-06
Longitudinal proteomic profiling provides insights into host response and proteome dynamics in COVID-19 progression
DOI
2021-09
Determination of Clinical Characteristics of Mycobacterium kansasii-Derived Species by Reanalysis of Isolates Formerly Reported as M. kansasii
DOI
2021-11
Evidence of Severe Acute Respiratory Syndrome Coronavirus 2 Reinfection After Recovery from Mild Coronavirus Disease 2019
DOI
2022-03
SnackNTM: An Open-Source Software for Sanger Sequencing-based Identification of Nontuberculous Mycobacterial Species

Kim, Young-Gon; Jung, Kiwook; Kim, Seunghwan; Kim, Man Jin; Lee, Jee-Soo; Park, Sung-Sup; Seong, Moon-Woo

Annals of Laboratory Medicine, Vol.42 No.2, pp.213-248

DOI
2022-03
Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene

Yang, Dahae; Cho, Sanghyun; Cho, Sung I.; Kim, Manjin; Seong, Moon-Woo; Park, Sung S.

Orphanet Journal of Rare Diseases. 2022 Mar 04;17(1):111

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2022-04
The importance of extracutaneous organ involvement for the clinical severity and prognosis observed in incontinentia pigmenti caused by IKBKG mutations

Kim, Hwa Young; Ko, Jung Min; Song, Hyun Beom; Kim, Kyu Han; Chae, Jong Hee; Kim, Man Jin; Seong, Moon-Woo

European Journal of Human Genetics, Vol.30 No.SUPPL 1, pp.166-167

2022-05
Epidemiologic Trends of Thalassemia, 2006-2018: A Nationwide Population-Based Study
DOI
2022-05
The First Korean Case of Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistiocytosis and Partial Albinism
DOI
2022-05
Skewed X-Chromosome Inactivation in a Korean Girl with Severe Mucopolysaccharidosis Type II

Kim, Hwa Young; Kim, Man Jin; Seong, Moon-Woo; Ko, Jung Min

Annals of Laboratory Medicine, Vol.42 No.3, pp.373-375

DOI
2022-07
Update of Guidelines for Laboratory Diagnosis of COVID-19 in Korea
DOI
2022-08
Clinical staging and genetic profiling of Korean patients with primary lymphedema using targeted gene sequencing
DOI
2022-09
Guidelines for Mobile Laboratories for Molecular Diagnostic Testing of COVID-19
DOI
2022-10
The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure
DOI
2022-11
Immunohistochemical Staining to Identify Concomitant Systemic Mastocytosis in Acute Myeloid Leukemia with RUNX1 ::RUNX1T1
DOI
2022-12
SARS-CoV-2 shedding dynamics and transmission in immunosuppressed patients
DOI
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