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[특허 제 10-1507505호] 제1형 근긴장성 이영양증의 진단방법

 
 

​논문

Title
Author
Publish date
Journal
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
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
Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis.
Lee JS, Choi JM, Lee M, Kim SY, Lee S, Lim BC, Cheon JE, Kim IO, Kim KJ, Choi M, Seong MW, Chae JH.
2018 May
Brain Dev. 2018
Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability.
Han JY, Jang JH, Park J, Lee IG.
2018. Dec
Front Pediatr. 2018
A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets.
Yang M, Kim J, Yang A, Jang J, Jeon TY, Cho SY, Jin DK.
2018. Dec
Ann Pediatr Endocrinol Metab. 2018
A De Novo RAPGEF2 Variant Identified in a Sporadic Amyotrophic Lateral Sclerosis Patient Impairs Microtubule Stability and Axonal Mitochondria Distribution.
Heo K, Lim SM, Nahm M, Kim YE, Oh KW, Park HT, Ki CS, Kim SH, Lee S.
2018. Dec
Exp Neurobiol. 2018
The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing.
Choi EM, Lee DH, Kang SJ, Shim YJ, Kim HS, Kim JS, Jeong JI, Ha JS, Jang JH.
2018. Dec
Korean J Pediatr. 2018
Analysis of frontotemporal dementia, amyotrophic lateral sclerosis, and other dementia-related genes in 107 Korean patients with frontotemporal dementia.
Kim EJ, Kim YE, Jang JH, Cho EH, Na DL, Seo SW, Jung NY, Jeong JH, Kwon JC, Park KH, Park KW, Lee JH, Roh JH, Kim HJ, Yoon SJ, Choi SH, Jang JW, Ki CS, Kim SH.
2018. Dec
Neurobiol Aging. 2018
Oculodentodigital Dysplasia with a Novel Mutation in GJA1 Diagnosed by Targeted Gene Panel Sequencing: A Case Report and Literature Review.
Choi J, Yang A, Song A, Lim M, Kim J, Jang JH, Park KT, Cho S, Jin DK.
2018. Nov
Ann Clin Lab Sci. 2018
A case of inherited type 1 and type 2A von Willebrand disease confirmed by diagnostic exome sequencing.
Shim YJ, Park SY, Jung N, Kim HS, Ha JS, Jang JH.
2018. Oct
Pediatr Blood Cancer. 2018
Bronchiectasis and Recurrent Respiratory Infections with a De Novo STAT1 Gain-of-Function Variant: First Case in Korea.
Huh HJ, Jhun BW, Choi SR, Kim YJ, Yun SA, Nham E, Kong T, Ki CS, Koh WJ.
2018. Oct
Yonsei Med J. 2018
First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea.
Kim KH, Song JS, Park CW, Ki CS, Heo K.
2018. Aug
Yonsei Med J. 2018
First Korean Case of Renpenning Syndrome with Novel Mutation in PQBP1 Diagnosed by Targeted Exome Sequencing, and Literature Review.
Jeong HI, Yang A, Kim J, Jang JH, Cho SY, Jin DK.
2018. Jul
Ann Clin Lab Sci. 2018
A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report.
Lee CG, Jang J, Jin HS.
2018. Jun
Mol Med Rep. 2018
Phenotypic Analysis of Korean Patients with Abnormal Chromosomal Microarray in Patients with Unexplained Developmental Delay/Intellectual Disability.
Kim HJ, Park CI, Lim JW, Lee GM, Cho E, Kim HJ.
2018. May
Yonsei Med J. 2018
Characteristic dysmorphic features in congenital disorders of glycosylation type IIb.
Kim YM, Seo GH, Jung E, Jang JH, Kim SZ, Lee BH.
2018. Mar
J Hum Genet. 2018
Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A.
Seo SH, Kim SY, Cho SI, Park H, Lee S, Choi JM, Kim MJ, Lee JS, Ahn KJ, Song MK, Bae EJ, Park SS, Seong MW.
2018. Jan
Ann Lab Med. 2018
High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.
Kim YM, Lee YJ, Park JH, Lee HD, Cheon CK, Kim SY, Hwang JY, Jang JH, Yoo HW.
2017. Dec
Clin Genet. 2017
An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing.
Kim J, Cho SY, Yang A, Jang JH, Choi Y, Lee JE, Jin DK.
2017. Sep
Ann Pediatr Endocrinol Metab. 2017
Carrier frequency of Wilson's disease in the Korean population: a DNA-based approach.
Jang JH, Lee T, Bang S, Kim YE, Cho EH.
2017. Sep
J Hum Genet. 2017
Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing.
Yang A, Cho SY, Jang JH, Kim J, Kim SZ, Lee BH, Yoo HW, Jin DK.
2017. Aug
Clin Chim Acta. 2017
Evaluation of a Real-Time Reverse Transcription-PCR (RT-PCR) Assay for Detection of Middle East Respiratory Syndrome Coronavirus (MERS-CoV) in Clinical Samples from an Outbreak in South Korea in 2015.
Lee JS, Ahn JS, Yu BS, Cho SI, Kim MJ, Choi JM, Seo SH, Park SS, Seong MW.
2017. Aug
J Clin Microbiol. 2017
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH, Chae J, Choi S, Kim MJ, Choi M, Chae JH, Cho EH, Hwang TJ, Jang SS, Kim JI, Park KS, Bang YJ.
2017. Jul
Exp Mol Med. 2017
Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy.
Kim MW, Jang DH, Kang J, Lee S, Joo SY, Jang JH, Cho EH, Choi YC, Lee JH.
2017. Jul
Ann Lab Med. 2017
Effectiveness of levetiracetam in an acetazolamide-unresponsive patient with episodic ataxia type 2 by a novel CACNA1A nonsense mutation.
Lee H, Jang DH, Jang JH, Kim T.
2017. Jul
Eur J Neurol. 2017
Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivors.
Song JS, Kang JS, Kim YE, Park SJ, Park KM, Huh J, Kim JS, Cho H, Ki CS, On YK.
2017. Jun
J Hum Genet. 2017
Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients.
Park B, Sohn JY, Yoon KA, Lee KS, Cho EH, Lim MC, Yang MJ, Park SJ, Lee MH, Lee SY, Chang YJ, Lee DO, Kong SY, Lee ES.
2017. May
Breast Cancer Res Treat. 2017
Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings.
Yang JY, Sohn YB, Lee JS, Jang JH, Lee ES.
2017. Apr
JAAD Case Rep. 2017
Case Report of Menopausal Woman Diagnosed with Endometrial Cancer after Colon Cancer with Germline Mutation in MSH6 in Korea.
Lee HJ, Lee MH, Choi MC, Jung SG, Joo WD, Kim TH, Lee C, Jang JH.
2017. Apr
J Menopausal Med. 2017
Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development.
Kim JH, Kang E, Heo SH, Kim GH, Jang JH, Cho EH, Lee BH, Yoo HW, Choi JH.
2017. Mar
Mol Cell Endocrinol. 2017
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