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​논문

Title
Author
Publish date
Journal
Proposal of a New Prognostic Model for Differentiated Thyroid Cancer with TERT Promoter Mutations
Park J, Lee S, Park J, Park H, Ki CS, Oh YL, Shin JH, Kim JS, Kim SW, Chung JH, Kim K, Kim TH.
2021 Jun
Cancers (Basel). 2021
Molecular classification of follicular thyroid carcinoma based on TERT promoter mutations
Park H, Shin HC, Yang H, Heo J, Ki CS, Kim HS, Kim JH, Hahn SY, Chung YJ, Kim SW, Chung JH, Oh YL, Kim TH.
2021 Sep
Mod Pathol. 2021
Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis
Hwang N, Jang JH, Cho EH, Choi R, Choi SJ, Park HD.
2021 Oct
Mol Genet Genomic Med. 2021
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein-Taybi syndrome-related arterial vasculopathy and skeletal anomaly
Park JE, Kim E, Lee DW, Park TK, Kim MS, Jang SY, Ahn J, Park KB, Kim KH, Park HC, Ki CS, Kim DK.
2021 Aug
Sci Rep. 2021
De novo mutations in SOD1 are a cause of ALS
Müller K, Oh KW, Nordin A, Panthi S, Kim SH, Nordin F, Freischmidt A, Ludolph AC, Ki CS, Forsberg K, Weishaupt J, Kim YE, Andersen PM.
2021 Sep
J Neurol Neurosurg Psychiatry. 2021
Identification of MECP2 Duplication Using Low-Depth Whole-Genome Sequencing-Based Copy Number Variation Analysis
Jang MA, Park S, Park JE, Kim YE, Ki CS
2020 Apr
Lab Med Online. 2020
Development of Crohn’s Disease in a Child With SLC26A3-related Congenital Chloride Diarrhea: Report of the First Case in East Asia and a Novel Missense Variant
Kim ES, Song JS, Ki CS, Choe YH, Kang B
2021 Mar
Ann Lab Med. 2021
Metaphyseal Dysplasia Without Hypotrichosis Caused by RNA Component of Mitochondrial RNA-Processing Endoribonuclease (RMRP) Gene Variants: The First Case in Korea
Namgoong H, Ki CS, Hyun H, Yoo IH, Cho WK, Lee JH, Oh JH
2021 May
Ann Lab Med. 2021
A Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T; 6843G>C] causes a Coffin–Siris Syndrome
Lee CG, Ki CS
2021 May
Ann Lab Med. 2021
Response of Clinical Laboratories to the Ongoing COVID-19 Pandemic
Kim YJ, Sung H, Ki CS, Hur M.
2021 Nov
Ann Lab Med. 2021
Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience
Kim SJ, Lee SM, Choi JM, Jang JH, Kim HG, Kim JT, Cho JH, Sohn YB.
2021 May
Front Genet. 2021
Case report of juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome: first report in Korea with a novel mutation in the SMAD4 gene
Kang B, Hwang SK, Choi S, Kim ES, Lee SY, Ki CS, Cho EH, Lee JH, Choe BH.
2021 May
Transl Pediatr. 2021
Genetic Confirmation and Identification of Novel Variants for Glanzmann Thrombasthenia and Other Inherited Platelet Function Disorders: A Study by the Korean Pediatric Hematology Oncology Group (KPHOG)
Yang EJ, Shim YJ, Kim HS, Lim YT, Im HJ, Koh KN, Kim H, Suh JK, Park ES, Lee NH, Choi YB, Hah JO, Lee JM, Han JW, Lee JH, Lee YH, Jung HL, Ha JS, Ki CS, On Behalf Of The Benign
2021 May
Genes (Basel). 2021
A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study
Park KS, Lee W, Seong MW, Kong SY, Lee KA, Ha JS, Cho EH, Han SH, Park I, Kim JW.
2021 May
Cancers (Basel). 2021
Hypertriglyceridemia with acute pancreatitis in a 14-year-old girl with diabetic ketoacidosis
Park H, Kim MS, Kim J, Lee SM, Cho SY, Yoo EG, Jin DK.
2021 May
Ann Pediatr Endocrinol Metab. 2021
Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis
Park JE, Lee T, Ha K, Ki CS.
2021 Apr
Orphanet J Rare Dis. 2021
Prevalence of granular corneal dystrophy type 2-related TGFBI p.R124H variant in a South Korean population
Park JE, Yun SA, Roh EY, Yoon JH, Shin S, Ki CS.
2021 May
Mol Vis. 2021
Urinary Microbiome Characteristics in Female Patients with Acute Uncomplicated Cystitis and Recurrent Cystitis
Yoo JJ, Shin HB, Song JS, Kim M, Yun J, Kim Z, Lee YM, Lee SW, Lee KW, Kim WB, Ryu CB, Park SW, Park SK, Song HY, Kim YH, On The Behalf Of Sms Soonchunhyang Microbiome Multi-Disciplinary Study Group.
2021 Mar
J Clin Med. 2021
TERT Promoter Mutations and the 8th Edition TNM Classification in Predicting the Survival of Thyroid Cancer Patients
Park J, Lee S, Kim K, Park H, Ki CS, Oh YL, Shin JH, Kim JS, Kim SW, Chung JH, Kim TH.
2021 Feb
Cancers (Basel), 2021
Genomic Analysis of Korean Patient With Microcephaly
Lee J, Park JE, Lee C, Kim AR, Kim BJ, Park WY, Ki CS, Lee J.
2021 Jan
Front Genet, 2021
Genetic Evaluation of Congenital Hypothyroidism with Gland in situ Using Targeted Exome Sequencing
Shin JH, Kim HY, Kim YM, Lee H, Bae MH, Park KH, Lee SM, Kwak MJ.
2021 Jan
Ann Clin Lab Sci, 2021
Genomic mutation profiling using liquid biopsy in Korean patients with prostate cancer: Circulating tumor DNA mutation predicts the development of castration resistance
Yu J, Cho E, Choi J, Lim JE, Lee J, Kang M, Sung HH, Jeong BC, Seo SI, Jeon SS, Lee HM, Jeon HG.
2021 Mar
Investig Clin Urol, 2021
Comparison of Longitudinal Changes of Cerebral Small Vessel Disease Markers and Cognitive Function Between Subcortical Vascular Mild Cognitive Impairment With and Without NOTCH3 Variant: A 5-Year Follow-Up Study
Yoon CW, Kim YE, Kim HJ, Ki CS, Lee H, Rha JH, Na DL, Seo SW.
2021 Feb
Front Neurol, 2021
Recent Advances in the Clinical Application of Next-Generation Sequencing
Ki CS.
2020 DEC
Pediatr Gastroenterol Hepatol Nutr, 2021
Genetic Analysis of Korean Adult Patients with Nontuberculous Mycobacteria Suspected of Primary Ciliary Dyskinesia Using Whole Exome Sequencing
Cho EH, Ki CS, Yun SA, Kim SY, Jhun BW, Koh WJ, Huh HJ, Lee NY.
2021 Mar
Yonsei Med J, 2021
A boy with Coffin-Siris syndrome with a novel frameshift mutation in ARID1B
Park H, Kim MS, Kim J, Jang JH, Choi JM, Lee SM, Cho SY, Jin DK.
2021 Jan
Neuro Endocrinol Lett, 2021
Genome-wide and size-based cell-free DNA indices as predictive biomarkers for locally advanced esophageal squamous cell carcinoma treated with preoperative or definitive chemoradiotherapy
Kim EJ, Im HS, Lee J, Cho EH, Kim YH, Kim HR, Kim JH, Park SR.
2020 Nov
Curr Probl Cancer. 2020
The First Korean Case of Baraitser-Winter Cerebro-Fronto-Facial Syndrome with a Novel Mutation in ACTB Diagnosed Via Targeted Gene Panel Sequencing and Literature Review
Choi GJ, Kim MS, Park H, Kim JY, Choi JM, Lee SM, Jang JH, Cho SY, Jin DK.
2020 Nov
Ann Clin Lab Sci. 2020
Exon splicing analysis of intronic variants in multigene cancer panel testing for hereditary breast/ovarian cancer
Ryu JS, Lee HY, Cho EH, Yoon KA, Kim MK, Joo J, Lee ES, Kang HS, Lee S, Lee DO, Lim MC, Kong SY.
2020 Oct
Cancer Sci. 2020
Metaphyseal Dysplasia Without Hypotrichosis Caused by RNA Component of Mitochondrial RNA-Processing Endoribonuclease (RMRP) Gene Variants: The First Case in Korea.
Namgoong H, Ki CS, Hyun H, Yoo IH, Cho WK, Lee JH, Oh JH.
2021 May
Ann Lab Med. 2021
A Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T;6843G>C] causes a Coffin-Siris Syndrome.
Lee CG, Ki CS.
2021 May
Ann Lab Med. 2021
ANXA11 mutations in ALS cause dysregulation of calcium homeostasis and stress granule dynamics.
Nahm M, Lim SM, Kim YE, Park J, Noh MY, Lee S, Roh JE, Hwang SM, Park CK, Kim YH, Lim G, Lee J, Oh KW, Ki CS, Kim SH.
2020 Oct
Sci Transl Med. 2020
Development of Crohn's Disease in a Child With SLC26A3-related Congenital Chloride Diarrhea: Report of the First Case in East Asia and a Novel Missense Variant
Kim ES, Song JS, Ki CS, Choe YH, Kang B.
2021 Mar
Ann Lab Med. 2021
The First Korean Family with Aarskog-Scott Syndrome Harboring a Novel Mutation in FGD1 Diagnosed via Targeted Gene Panel Sequencing
Bae GY, Kim MS, Kim JY, Jang JH, Lee SM, Cho SY, Jin DK.
2020 Sep
Ann Clin Lab Sci. 2020
A late-onset male Fabry disease patient with somatic mosaicism of a classical GLA mutation: a case report
Bae EH, Choi JM, Ki CS, Ma SK, Yoo HW, Kim SW.
2020 Sep
Ann Palliat Med. 2020
The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant
Lee CG, Seol CA, Ki CS.
2020 Sep
Am J Med Genet A. 2020
High prevalence of increased sitosterol levels in hypercholesterolemic children suggest underestimation of sitosterolemia incidence
Lee JH, Song DY, Jun SH, Song SH, Shin CH, Ki CS, Lee K, Song J.
2020 Aug
PLoS One. 2020
Positional Hemiseesaw Nystagmus in Ataxia with Oculomotor Apraxia Type 2 due to a Novel Senataxin Gene Mutation: A New Phenotype
Jo HY, Shin JH, Kim HY, Kim YM, Lee H, Bae MH, Park KH, Jang JH, Kwak MJ
2020 Mar
Res Vestib Sci. 2020
De Novo SCN8A Pathogenic Variant (c.5630A>G; p.Asn1877Ser) Presenting with a Relatively Mild Phenotype
Kim E, Ki CS, Park S, Lee KY
2020 Jul
Ann Child Neurol. 2020
Distribution and clinical impact of apolipoprotein E4 in subjective memory impairment and혻early mild cognitive impairment
Cho H, Kim YE, Chae W, Kim KW, Kim JW, Kim HJ, Na DL, Ki CS, Seo SW.
2020. Aug
Sci Rep. 2020
Highly Sensitive and Specific Molecular Test for Mutations in the Diagnosis of Thyroid Nodules: A Prospective Study of BRAF-Prevalent Population
Cho YY, Park SY, Shin JH, Oh YL, Choe JH, Kim JH, Kim JS, Yim HS, Kim YL, Ki CS, Kim TH, Chung JH, Kim SW.
2020. Aug
Int J Mol Sci. 2020
Genetic heterogeneity and prognostic impact of recurrent ANK2 and TP53 mutations in mantle cell lymphoma: a multi-centre cohort study.
Jeong S, Park YJ, Yun W, Lee ST, Choi JR, Suh C, Jo JC, Cha HJ, Jeong JY, Chang H, Cha YJ, Kim H, Park MJ, Song W, Cho EH, Jeong EG, Lee J, Park Y, Lee YS, Kim DJ, Lee HS.
2020. Aug
Sci Rep. 2020
Exon splicing analysis of intronic variants in multi-gene cancer panel testing for hereditary breast/ovarian cancer
Ryu JS, Lee HY, Cho EH, Yoon KA, Kim MK, Joo J, Lee ES, Kang HS, Lee S, Lee DO, Lim MC, Kong SY.
2020. Aug
Cancer Sci. 2020
The First Case of an Infant with Familial A20 Haploinsufficiency in Korea
Kim HY, Song JY, Kim WI, Ko HC, Park SE, Jang JH, Kim SH.
2020. Aug
J Korean Med Sci. 2020
Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy
Lee J, Lee C, Ki CS, Lee J.
2020. Jul
Mol Genet Genomic Med. 2020
Incidental Severe Fatty Degeneration of the Erector Spinae in a Patient with L5-S1 Disc Extrusion Diagnosed with Limb-Girdle Muscular Dystrophy R2 Dysferin-Related
Kim DH, Jang DH, Jang JH.
2020. Jul
Diagnostics (Basel). 2020
A novel de novo heterozygous DYRK1A mutation causes complete loss of DYRK1A function and developmental delay
Lee KS, Choi M, Kwon DW, Kim D, Choi JM, Kim AK, Ham Y, Han SB, Cho S, Cheon CK.
2020. Jun
Sci Rep. 2020
Dopa-responsive dystonia with additional unusual clinical features: A case report confirmed by molecular genetics
Lee WW, Choi JM, Lee CG
2020. Jun
J Genet Med. 2020
Genotype-Related Clinical Characteristics and Myocardial Fibrosis and their Association with Prognosis in Hypertrophic Cardiomyopathy
Kim HY, Park JE, Lee SC, Jeon ES, On YK, Kim SM, Choe YH, Ki CS, Kim JW, Kim KH.
2020. Jun
J Clin Med. 2020
The First Korean Case of De Novo Proximal 4p Deletion Syndrome in a Child With Developmental Delay.
Park S, Jeon BR, Lee YK, Ki CS, Jang MA.
2020. Apr
Ann Lab Med. 2020
Identification of a novel variant in the PHEX gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets.
Jo HY, Shin JH, Kim HY, Kim YM, Lee H, Bae MH, Park KH, Jang JH, Kwak MJ.
2020. Apr
Ann Pediatr Endocrinol Metab. 2020
Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clue.
Bae H, Kim MS, Park H, Jang JH, Choi JM, Lee SM, Cho SY, Jin DK.
2020. Apr
Ann Pediatr Endocrinol Metab. 2020
COVID-19 Testing in South Korea: Current Status and the Need for Faster Diagnostics.
Kim YJ, Sung H, Ki CS, Hur M.
2020. Apr
Ann Lab Med. 2020
A nonsense variant in NME5 causes human primary ciliary dyskinesia with radial spoke defects.
Cho EH, Huh HJ, Jeong I, Lee NY, Koh WJ, Park HC, Ki CS.
2020. Mar
Clin Genet. 2020
A female with typical fragile-X phenotype caused by maternal isodisomy of the entire X chromosome.
Kim JK, Jeong JE, Choi JM, Kim GH, Yoo HW.
2020. Mar
J Hum Genet. 2020
Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population.
Park JE, Yun SA, Roh EY, Yoon JH, Shin S, Ki CS.
2020. Jul
Ann Lab Med. 2020
A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss.
Song JS, Bahloul A, Petit C, Kim SJ, Moon IJ, Lee J, Ki CS.
2020. May
Ann Lab Med. 2020
From Genetic Testing to Treatment and Prevention of BRCA-Related Breast Cancer.
Ki CS.
2020. Mar
Ann Lab Med. 2020
PSEN1 variants in Korean patients with clinically suspicious early-onset familial Alzheimer's disease.
Kim YE, Cho H, Kim HJ, Na DL, Seo SW, Ki CS.
2020. Feb
Sci Rep. 2020
Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience.
Kwon WK, Choi S, Kim HJ, Huh HJ, Kang JM, Kim YJ, Yoo KH, Ahn K, Cho HK, Peck KR, Jang JH, Ki CS, Kang ES.
2020. Feb
Allergy Asthma Immunol Res. 2020
Analysis of dementia-related gene variants in APOE ε4 noncarrying Korean patients with early-onset Alzheimer's disease.
Park JE, Kim HJ, Kim YE, Jang H, Cho SH, Kim SJ, Na DL, Won HH, Ki CS, Seo SW.
2020. Jan
Neurobiol Aging. 2020
First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln).
Lee CG, Jang JH, Seo JY.
2019. Dec
Ann Pediatr Endocrinol Metab. 2019
Phenotypic association of presence of a somatic GNAQ mutation with port-wine stain distribution in capillary malformation.
Lee KT, Park JE, Eom Y, Lim HS, Ki CS, Lim SY.
2019. Dec
Head Neck. 2019
Characterization of a novel LQT3 variant with a selective efficacy of mexiletine treatment.
Kim HJ, Kim BG, Park JE, Ki CS, Huh J, Youm JB, Kang JS, Cho H.
2019. Sep
Sci Rep. 2019
Clinically significant maternal X chromosomal copy number variation detected by noninvasive prenatal test.
Kim SC, Cha DH, Jeong HR, Lee J, Jang JH, Cho EH.
2019. Sep
J Obstet Gynaecol Res. 2019
Methylmalonic Acid and Homocysteine as Indicators of Vitamin B12 Deficiency in Patients with Gastric Cancer after Gastrectomy.
Lee SM, Oh J, Chun MR, Lee SY.
2019. Feb
Nutrients. 2019
Spontaneous Pisa syndrome in a patient with early-onset Alzheimer's disease.
Woo KA, Yoo D, Ki CS, Lee JY.
2019. Dec
Neurol Sci. 2019
Two Novel Mutations (c.883-4_890del and c.1684C>G) of WDR62 Gene Associated With Autosomal Recessive Primary Microcephaly: A Case Report.
Yi YG, Lee DW, Kim J, Jang JH, Lee SM, Jang DH.
2019. Nov
Front Pediatr. 2019
Different parental origins of supernumerary X chromosomes in brothers with Klinefelter syndrome: A case report.
Kim SH, Park MJ, Cho EH, Kim S, Yoo SJ.
2019. Nov
Medicine (Baltimore). 2019
Hereditary Sensory and Autonomic Neuropathy 2B Caused by a Novel RETREG1 Mutation (c.765dupT) and Paternal Uniparental Isodisomy of Chromosome 5.
Park GY, Jang DH, Lee DW, Jang JH, Joo J.
2019. Oct
Front Genet. 2019
Moyamoya Disease and Spectrums of RNF213 Vasculopathy.
Bang OY, Chung JW, Kim DH, Won HH, Yeon JY, Ki CS, Shin HJ, Kim JS, Hong SC, Kim DK, Koizumi A.
2019. Oct
Transl Stroke Res. 2019
Author Correction: Multimodal imaging analyses in patients with genetic and sporadic forms of small vessel disease.
Kim KW, Kwon H, Kim YE, Yoon CW, Kim YJ, Kim YB, Lee JM, Yoon WT, Kim HJ, Lee JS, Jang YK, Kim Y, Jang H, Ki CS, Youn YC, Shin BS, Bang OY, Kim GM, Chung CS, Kim SJ, Na DL, Duering M, et al.
2019. Oct
Sci Rep. 2019
Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients.
Park J, Oh HM, Park HJ, Cho AR, Lee DW, Jang JH, Jang DH.
2019. Oct
Mol Genet Genomic Med. 2019
Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders.
Kim YE, Ki CS, Jang MA.
2019. Sep
Ann Lab Med. 2019
Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene.
Heo S, Jang JH, Yu J.
2019. Sep
Ann Pediatr Endocrinol Metab. 2019
Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism.
Kim JH, Seo GH, Kim GH, Huh J, Hwang IT, Jang JH, Yoo HW, Choi JH.
2019. Sep
Exp Clin Endocrinol Diabetes. 2019
Two novel mutations in TTN of a patient with congenital myopathy: A case report.
Jang JY, Park Y, Jang DH, Jang JH, Ryu JS.
2019. Aug
Mol Genet Genomic Med. 2019
GenoType NTM-DR Performance Evaluation for Identification of Mycobacterium avium Complex and Mycobacterium abscessus and Determination of Clarithromycin and Amikacin Resistance.
Huh HJ, Kim SY, Shim HJ, Kim DH, Yoo IY, Kang OK, Ki CS, Shin SY, Jhun BW, Shin SJ, Daley CL, Koh WJ, Lee NY.
2019. Jul
J Clin Microbiol. 2019
Genomic analysis of Korean patients with advanced prostate cancer by use of a comprehensive next-generation sequencing panel and low-coverage, whole-genome sequencing.
Kang M, Cho E, Jang J, Lee J, Jeon Y, Jeong BC, Seo SI, Jeon SS, Lee HM, Choi HY, Jeon HG.
2019. Jul
Investig Clin Urol. 2019
A novel de novo mutation in MYH7 gene in a patient with early onset muscular weakness and severe kyphoscoliosis: A case report.
Ko JY, Lee M, Jang JH, Jang DH, Ryu JS.
2019. Jul
Medicine (Baltimore). 2019
A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in CYP27B1 gene.
Kim YM, Jang YY, Jeong JE, Park HJ, Jang JH, Kim JK.
2019. Jun
Ann Pediatr Endocrinol Metab. 2019
Identification of a novel mutation in EXT2 in a fourth-generation Korean family with multiple osteochondromas and overview of mutation spectrum.
Yang A, Kim J, Jang JH, Lee C, Lee JE, Cho SY, Jin DK.
2019. May
Ann Hum Genet. 2019
De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea.
Han KH, Park JE, Ki CS.
2019. May
Korean J Pediatr. 2019
A novel SMAD6 variant in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysm.
Park JE, Park JS, Jang SY, Park SH, Kim JW, Ki CS, Kim DK.
2019. May
Mol Genet Genomic Med. 2019
Correlation Between Vanishing White Matter Disease and Novel Heterozygous EIF2B3 Variants Using Next-Generation Sequencing: A Case Report.
Hyun SE, Choi BS, Jang JH, Jeon I, Jang DH, Ryu JS.
2019. Apr
Ann Rehabil Med. 2019
Genome-wide copy number alteration and VEGFA amplification of circulating cell-free DNA as a biomarker in advanced hepatocellular carcinoma patients treated with Sorafenib.
Oh CR, Kong SY, Im HS, Kim HJ, Kim MK, Yoon KA, Cho EH, Jang JH, Lee J, Kang J, Park SR, Ryoo BY.
2019. Apr
BMC Cancer. 2019
Comparative Evaluation Between the RealStar Pneumocystis jirovecii PCR Kit and the AmpliSens Pneumocystis jirovecii (carinii)-FRT PCR Kit for Detecting P. jirovecii in Non-HIV Immunocompromised Patients.
Huh HJ, Lim KR, Ki CS, Huh K, Shim HJ, Song DJ, Kim YJ, Chung DR, Lee NY.
2019. Mar
Ann Lab Med. 2019
T-Cell Receptor Rearrangements Determined Using Fragment Analysis in Patients With T-Acute Lymphoblastic Leukemia.
Kim H, Kim IS, Chang CL, Kong SY, Lim YT, Kong SG, Cho EH, Lee EY, Shin HJ, Park HJ, Eom HS, Lee H.
2019. Mar
Ann Lab Med. 2019
Comparison between DiaPlexQ??STI6 and GeneFinder??STD I/STD II multiplex Real-time PCR Kits in the detection of six sexually transmitted disease pathogens.
Huh HJ, Ki CS, Yun SA, Lee J, Oh GY, Lee NS, Yoon YH, Lee NY.
2019. Mar
J Clin Lab Anal. 2019
Genetic variants of PARK genes in Korean patients with early-onset Parkinson's disease.
Youn J, Lee C, Oh E, Park J, Kim JS, Kim HT, Cho JW, Park WY, Jang W, Ki CS.
2019. Mar
Neurobiol Aging. 2019
Multimodal imaging analyses in patients with genetic and sporadic forms of small vessel disease.
Kim KW, Kwon H, Kim YE, Yoon CW, Kim YJ, Kim YB, Lee JM, Yoon WT, Kim HJ, Lee JS, Jang YK, Kim Y, Jang H, Ki CS, Youn YC, Shin BS, Bang OY, Kim GM, Chung CS, Kim SJ, Na DL, Duering M, et al.
2019. Jan
Sci Rep. 2019
Compound Heterozygous Pathogenic Variants of the 15-Hydroxyprostaglandin Dehydrogenase Gene in a Patient With Hypertrophic Osteoarthropathy: First Case in Korea.
Ryu MR, Yang JH, Rhee SY, Cho A, Kim SY, Ki CS.
2019. Jan
Ann Lab Med. 2019
Is Cross-reactivity with Nontuberculous Mycobacteria a Systematic Problem in the Xpert MTB/RIF Assay?
Huh HJ, Song DJ, Ki CS, Lee NY.
2019. Jan
Tuberc Respir Dis (Seoul). 2019
Ring Finger Protein 213 Variant and Plaque Characteristics, Vascular Remodeling, and Hemodynamics in Patients With Intracranial Atherosclerotic Stroke: A High-Resolution Magnetic Resonance Imaging and Hemodynamic Study.
Choi EH, Lee H, Chung JW, Seo WK, Kim GM, Ki CS, Kim YC, Bang OY.
2019 Oct
J Am Heart Assoc. 2019
Regulation of porcine endogenous retrovirus by dual LTR1+2 (Long Terminal Region) miRNA in primary porcine kidney cells.
Chung HC, Nguyen VG, Moon HJ, Park YH, Park BK.
2019. Sep
J Vet Sci. 2019
An ANKRD11 exonic deletion accompanied by a congenital megacolon in an infant with KBG syndrome.
Seo GH, Oh A, Kang M, Kim EN, Jang JH, Kim DY, Kim KM, Yoo HW, Lee BH.
2019. Jun
J Genet Med. 2019
A Case of Urinary Tract Infection Caused by the Emerging Uropathogen Actinotignum schaalii.
Kwon WK, Song DJ, Huh HJ, Park SH, Ki CS, Lee NY.
2019. Apr
Lab Med Online. 2019
Smith-Kingsmore syndrome: The first report of a Korean patient with the MTOR germline mutation c.5395G>A p.(Glu1799Lys)
Lee D, Jang JH, Lee CG.
2019. Jun
J Genet Med. 2019
Identification of Compound Heterozygous EYS Variants in a Korean Patient with Retinitis Pigmentosa.
Kim HT, Jang JH, Kang K, Ki CS, Chung H
2018. Apr
Lab Med Online. 2018
Status of BRCA1/2 Genetic Testing Practices in Korea (2014)
Lee K, Jang JH, Lee ST, Yoon KA, Lee ES, Kim JW, Kong SY.
2018. Jul
Lab Med Online. 2018
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