about
Isolation and identification of Geosmithia argillacea from a fungal ball in the lung of a tuberculosis patient.Sequence variation data of F8 and F9 genes in functionally validated control individuals: implications on the molecular diagnosis of hemophilia.Association of CFTR gene variants with nontuberculous mycobacterial lung disease in a Korean population with a low prevalence of cystic fibrosis.Identification of DCX gene mutation in lissencephaly spectrum with subcortical band heterotopia using whole exome sequencing.Evaluation of performance of the Real-Q NTM-ID kit for rapid identification of eight nontuberculous mycobacterial species.Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in KoreaFrequency of the moyamoya-related RNF213 p.Arg4810Lys variant in 1,516 Korean individuals.Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in KoreaA novel mutation (c.200T>C) in the NAGLU gene of a Korean patient with mucopolysaccharidosis IIIB.Distribution of nontuberculous mycobacteria by multigene sequence-based typing and clinical significance of isolated strains.A novel nonsense mutation Tyr301* of PROS1 causing protein S deficiency.Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes.The t(11;14)(q13;q32) translocation as a poor prognostic parameter for autologous stem cell transplantation in myeloma patients with extramedullary plasmacytoma.Asp58Ala is the predominant mutation of the TTR gene in Korean patients with hereditary transthyretin-related amyloidosis.Evaluation of the iNtRON VRE vanA/vanB real-time PCR assay for detection of vancomycin-resistant enterococci.Mycobacterial infection after intravesical bacillus Calmette-Guërin treatment for bladder cancer: a case report.The first Korean case of childhood acute myeloid leukemia with inv(11)(p15q22)/NUP98-DDX10 rearrangement: a rare but recurrent genetic abnormality.Simultaneous occurrence of angioimmunoblastic T-cell lymphoma and plasma cell leukemia.First report on familial hemophagocytic lymphohistiocytosis with an abnormal immunophenotype and T cell monoclonality in Korea.Extra X chromosome in mosaic Klinefelter syndrome is associated with a hematologic malignancy.Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1.A unique case of dendritic cell neoplasm from monocyte-derived myeloid origin with distinct immunophenotype and cytomorphology.Effect of the Standardization of Diagnostic Tests on the Prevalence of Diabetes Mellitus and Impaired Fasting Glucose.Novel and recurrent mutations in the F13A1 gene in unrelated Korean patients with congenital factor XIII deficiencyChronic lymphocytic leukemia in Korean patients: frequent atypical immunophenotype and relatively aggressive clinical behaviorIdentification of TSC1 and TSC2 Mutations in Korean Patients With Tuberous Sclerosis ComplexRare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation SequencingChallenges and Considerations in Sequence Variant Interpretation for Mendelian DisordersCorrespondence: Response to "Evaluating the Cumulative Impact of Ionizing Radiation Exposure With Diagnostic Genetics"The First Korean Case of De Novo Proximal 4p Deletion Syndrome in a Child With Developmental DelayReporting Quality of Diagnostic Accuracy Studies in Laboratory Medicine: Adherence to Standards for Reporting of Diagnostic Accuracy Studies (STARD) 2015A Rare Case of Essential Thrombocythemia with Coexisting JAK2 and MPL Driver Mutations
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P50
description
researcher
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wetenschapper
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հետազոտող
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name
Mi-Ae Jang
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Mi-Ae Jang
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Mi-Ae Jang
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Mi-Ae Jang
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Mi-Ae Jang
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Mi-Ae Jang
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Mi-Ae Jang
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Mi-Ae Jang
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Mi-Ae Jang
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Mi-Ae Jang
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Mi-Ae Jang
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Mi-Ae Jang
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Mi-Ae Jang
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Mi-Ae Jang
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Mi-Ae Jang
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P106
P1153
25632614600
57050708200
P31
P496
0000-0002-6558-5236