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Showing results 1 to 34 of 34

Issue DateTitle / Author(s) / CitationFileAltmetrics
2008-09
Neonatal hair nicotine levels and fetal exposure to paternal smoking at home
DOI
2008-12
Comparison of the MicroScan, VITEK 2, and Crystal GP with 16S rRNA sequencing and MicroSeq 500 v2.0 analysis for coagulase-negative Staphylococci
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2009-01
Molecular and clinical characteristics of myotonic dystrophy type 1 in koreans
view filelink
2009-10
Efficient Molecular Genetic Diagnosis of Enlarged Vestibular Aqueducts in East Asians
view fileDOI
2010-05
Screening for MAPT and PGRN mutations in Korean patients with PSP/CBS/FTD

Kim, Han-Joon; Jeon, Beom S.; Yun, Ji Young; Seong, Moon-Woo; Lee, Jee-Young; Park, Sung Sup

PARKINSONISM & RELATED DISORDERS; Vol.16(4); 305-306

DOI
2012-08
A novel double mutation in cis in MFN2 causes Charcot-Marie-Tooth neuropathy type 2A
DOI
2014-09
A multi-institutional study of the prevalence of BRCA1 and BRCA2 large genomic rearrangements in familial breast cancer patients
view fileDOI
2015-01
Frequency and clinical implications of the isolation of rare nontuberculous mycobacteria
view fileDOI
2015-05
A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing
view fileDOI
2016-07
Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma
view fileDOI
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
2017-12
Implication of species change of Nontuberculous Mycobacteria during or after treatment
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2019-11
Comparative genomics of Mycoplasma pneumoniae isolated from children with pneumonia: South Korea, 2010–2016
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2019-12
Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance
DOI
2020-04
Direct Haplotyping-Based Noninvasive Prenatal Test for Myotonic Dystrophy Type 1 with Large CTG Expansion
DOI
2020-08
Mutation spectrum and biochemical features in infants with neonatal Dubin-Johnson syndrome

Kim, Kwang Y; Kim, Tae H; Seong, Moon-Woo; Park, Sung S; Moon, Jin S; Ko, Jae S

BMC Pediatrics. 2020 Aug 05;20(1):369

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2020-08
Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations
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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
Communication: Comparison of Respiratory Specimens for the Detection of SARS-CoV-2
2021-09
Determination of Clinical Characteristics of Mycobacterium kansasii-Derived Species by Reanalysis of Isolates Formerly Reported as M. kansasii
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
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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
2022-12
Clinical application of the Panbio™ COVID-19 Ag rapid test device and SSf-COVID19 kit for the detection of SARS-CoV-2 infection
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2023-02
ITDetect: a method to detect internal tandem duplication of FMS-like tyrosine kinase (FLT3) from next-generation sequencing data with high sensitivity and clinical application
view fileDOI
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