Search Results - "Seong, M.‐W."
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1
Diagnosis and treatment of nail melanoma: a review of the clinicopathologic, dermoscopic, and genetic characteristics
Published in Journal of the European Academy of Dermatology and Venereology (01-05-2022)“…Nail melanoma (NM) is an important differential diagnosis in patients with longitudinal melanonychia. However, diagnosis is often challenging as it is…”
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2
Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience
Published in Clinical genetics (01-04-2016)“…Muscular dystrophy (MD) is a genetically and clinically heterogeneous group of disorders. Here, we performed targeted sequencing of 18 limb‐girdle MD…”
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3
Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome
Published in Clinical genetics (01-07-2015)“…Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is an autosomal recessive disorder caused by mutations in the VPS33B and VIPAS39. Here, we…”
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4
Diagnostic accuracy of Xpert® MTB/RIF on bronchoscopy specimens in patients with suspected pulmonary tuberculosis
Published in The international journal of tuberculosis and lung disease (01-07-2013)“…OBJECTIVE: To determine the diagnostic accuracy of the Xpert® MTB/RIF assay using samples obtained through bronchoscopy in patients with suspected pulmonary…”
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5
Evaluation of Xpert® MTB/RIF assay: diagnosis and treatment outcomes in rifampicin-resistant tuberculosis
Published in The international journal of tuberculosis and lung disease (01-10-2015)“…SETTING: The Xpert® MTB/RIF assay is endorsed by the World Health Organization for the detection of rifampicin (RMP) resistant tuberculosis (TB).OBJECTIVE: To…”
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6
Mitochondrial DNA content is decreased in autosomal dominant optic atrophy
Published in Neurology (22-03-2005)“…Autosomal dominant optic atrophy (ADOA) is the commonest form of inherited optic neuropathy. Mutations in the OPA1 gene encoding a dynamin-related…”
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7
Germline mutations and genotype-phenotype correlations in patients with apparently sporadic pheochromocytoma/paraganglioma in Korea
Published in Clinical genetics (01-11-2014)“…The aim of our study was to assess the frequency of germline mutations and develop the genetic testing strategy in patients with apparently sporadic…”
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The Xpert® MTB/RIF assay evaluation in South Korea, a country with an intermediate tuberculosis burden
Published in The international journal of tuberculosis and lung disease (01-11-2012)“…SETTING: A central hospital laboratory in South Korea.OBJECTIVE: To evaluate the usefulness of the Xpert® MTB/RIF assay in a country with an intermediate…”
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9
Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease
Published in Clinical genetics (01-07-2012)“…Kim SY, Seong MW, Jeon BS, Kim SY, Ko HS, Kim JY, Park SS. Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with…”
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10
New Synthetic Route of Z-Type (Ba Co Fe O ) Hexaferrite Particles
Published in IEEE transactions on magnetics (01-06-2009)“…Z-type barium hexaferrite particles were synthesized by a one-step mixing-calcination process (MCP) and its magnetic properties were characterized and compared…”
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11
Effect of active smoking on asthma symptoms, pulmonary function, and BHR in adolescents
Published in Pediatric pulmonology (01-10-2009)“…Background Active smoking is known to increase asthma symptoms and bronchial hyper‐responsiveness (BHR) while decreasing pulmonary function in adults, but few…”
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12
Mutation spectrum of RB1 gene in Korean bilateral retinoblastoma patients using direct sequencing and gene dosage analysis
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13
Comprehensive mutational analysis of BRCA1/BRCA2 for Korean breast cancer patients: evidence of a founder mutation
Published in Clinical genetics (01-08-2009)“…The BRCA1 and BRCA2 genes are the strongest susceptibility genes identified for breast cancer worldwide. However, BRCA1/BRCA2 have been incompletely…”
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14
Accuracy of the Xpert® MTB/RIF assay for the diagnosis of extra-pulmonary tuberculosis in South Korea
Published in The international journal of tuberculosis and lung disease (01-01-2015)“…SETTING: The Xpert® MTB/RIF assay has been endorsed by the World Health Organization for the detection of pulmonary and extra-pulmonary tuberculosis…”
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15
USP47 and C terminus of Hsp70-interacting protein (CHIP) antagonistically regulate katanin-p60-mediated axonal growth
Published in The Journal of neuroscience (31-07-2013)“…Katanin is a heterodimeric enzyme that severs and disassembles microtubules. While the p60 subunit has the enzyme activity, the p80 subunit regulates the p60…”
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Asymmetric syntheses and lanthanide-induced CD studies of (24R and 24S) 5β-cholestane-3α,7α,12α,24,25-pentols
Published in Pure and applied chemistry (01-01-1994)Get full text
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The Xpert registered MTB/RIF assay evaluation in South Korea, a country with an intermediate tuberculosis burden
Published in The international journal of tuberculosis and lung disease (01-11-2012)“…SETTING: A central hospital laboratory in South Korea. OBJECTIVE: To evaluate the usefulness of the Xpert registered MTB/RIF assay in a country with an…”
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Journal Article -
18
Diagnostic accuracy of Xpert registered MTB/RIF on bronchoscopy specimens in patients with suspected pulmonary tuberculosis
Published in The international journal of tuberculosis and lung disease (01-07-2013)“…OBJECTIVE: To determine the diagnostic accuracy of the Xpert registered MTB/RIF assay using samples obtained through bronchoscopy in patients with suspected…”
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Journal Article -
19
Hereditary Non-polyposis Colorectal Cancer/Lynch Syndrome in Korean Patients with Endometrial Cancer
Published in Japanese journal of clinical oncology (01-12-2010)“…Objective We investigate the frequency of hereditary non-polyposis colorectal cancer among Korean endometrial cancer patients according to two clinical…”
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Neonatal Hair Nicotine Levels and Fetal Exposure to Paternal Smoking at Home
Published in American journal of epidemiology (15-11-2008)“…Exposure to environmental tobacco smoke (ETS) is a major risk to human health, and the home is the greatest single source of ETS for children. The authors…”
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