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진료과

  • 의과대학-진단검사의학교실, 진단검사의학과

전문진료분야

  • 분자유전학, 세포유전학

교육 및 임상 경력

  • 1999-2003  삼성서울병원  전임의,  성균관의대  연구전임강사
  • 2003-2005  고려대  진단검사의학과  임상조교수
  • 2005-2007  한림대  진단검사의학과  조교수
  • 2007-2008  연세의대  진단검사의학과  조교수
  • 2009-2014.2  연세의대  진단검사의학과  부교수
  • 2014.3-현재  연세의대  진단검사의학과  교수

학술관련경력

  • 2006-현재 한국유전자검사평가원 홍보부장, 현장실사위원회위원장
  • 2008-현재 대한진단검사의학회 보험위원
  • 2009-현재 Annals of Laboratory Medicine 진단유전학 책임편집위원
  • 2011- 현재 보건복지부 신의료기술평가위원회 전문평가위원
  • 2013-현재 대한유전분자진단학회 분자유전 위원장, 대한진단검사의학회 이사

주요 관심분야

  • 분자유전학
  • 세포유전학

학력사항

  • 연세대학교 의학과 학사 (1993)
  • 연세대학교 의학과 석사 (1997)
  • 한림대학교 의학과 박사 (2001)

논문

  • Increased Frequencies of Glutathione S-Ttransferase Gene Deletions in Korean Patients with Acquired Aplastic Anemia, Blood 2001
  • Tandem Translocation of Chromosomes 22 and 15 with Two Preserved Satellite Stalk Regions and Deletion 22q13.3-qter, Am J Med Genet 2001
  • A Novel Missense Mutation in the SPG4 Gene in a Korean Family with Autosomal-Dominant Hereditary Spastic Paraplegia, J Hum Genet 2002
  • Complete Sequencing of a Genetic Polymorphim in N-Acetyltransferase 2 in the Korean Population, Clin Chem 2002
  • Haplotype Structure of the UDP-Glucuronosyltransferase 1A1 Gene and Its Relationship to Serum Total Bilirubin Concentration in a Male Korean Population, Clin Chem 2003
  • Efficacy of imatinib mesylate in chronic neutrophilic leukemia with t(15;19), Am J Hematol 2004
  • Novel Interleukin 1beta Polymorphism Increased the Risk of Gastric Cancer in a Korean Population, J Gastroenterol 2004
  • TP53BP2 Locus Is Associated with Gastric Cancer Susceptibility, Int J cancer 2005
  • Heterozygosities of 735 Microsatellite Markers and Background Linkage Disequilibrium in the Korean Population, Exp Mol Med 2006
  • t(8;21)의 새로운 변이형 전위인 t(8;16)(q22;p13.3)을 가진 급성골수구성백혈병(AML-M2) 1례.
    대한혈액학회지 35/3 :287-291,2000
  • 15번 염색체에서 유래한 Bisatellited Marker 염색체 1예.  
    대한임상병리학회지 20/2 :242-245,2000
  • 진단유전학분과 신빙도조사 결과보고 (1999). 
    임상병리와 정도관리 22/1 :153-165,2000
  • Increased frequencies of glutathione S-transferase (GSTM1 and GSTT1) gene deletions in Korean patients with acquired aplastic anemia
    BLOOD 98/12 :3483-3485,2001
  • Tandem Translocation of Chromosomes 22 and 15 with Two Preserved Satellite Stalk Regions and Deletion 22q13.3-qter.
    CONNECTOR SPECIFIER 104/0 :291-294,2001
  • 진단유전학분과 신빙도조사 결과보고 (2000).
    임상검사와 정도관리 23/1 :175-183,2001
  • 분류 불능형 면역결핍증에서 발생한 lymphoid interstitial pneumonia의 clonality 
    대한소아혈액종양학회지(Korean J Pediatr Hematol-Oncol) 8/2 :355-360,2001
  • 후천성 재생불량성빈혈의 세포유전학적 소견.
    대한진단검사의학회지(Korean Journal Of Legal Medicine) 21/4 :240-245,2001
  • 표면 면역글로불린 양성인FAB L1형 급성림프아구성백혈병 1례.  
    대한혈액학회지 36/2 :171-175,2001
  • 평균 적혈구 혈색소 농도를 이용한 유전성구상적혈구증과 혈관내 용혈의 감별 진단. 
    소아과 44/6 :664-668,2001
  • 급성백혈병 환자에서 거핵구 이형성과 염색체 3q 이상과의 관련성 분석.
    대한진단검사의학회지(Korean Journal Of Legal Medicine) 21/1 :1-6,2001
  • 한국인 급성골수구성백혈 및 골수이형성증후군 환자에서 glutathione S-transferase 유전자 결손분석
    대한혈액학회지 37/4 :265-269,2002
  • A novel missense mutation (I344K) in the SPG4 gene in a Korean family with autosomal-dominant hereditary spastic paraplegia
    JOURNAL OF HUMAN GENETICS 47/9 :473-477,2002
  • 비타민 B12 결핍 거대적아구성 빈혈 진단을 위한 Methylmalonic Acid 검사의 유용성
    대한진단검사의학회지(Korean Journal Of Legal Medicine) 22/3 :145-152,2002
  • Complete Sequencing of a Genetic Polymorphim in N-Acetyltransferase 2 (NAT2) in the Korean Population.
    CLINICAL CHEMISTRY 48/5 :775-777,2002
  • DNA Topoisomerase II 억제제 치료 후 발생한 11q23 재배열
    대한진단검사의학회지(Korean Journal Of Legal Medicine) 22/1 :57-62,2002
  • DNA Topoisomerase II 억재제 치료 후 발생한 11q23 재배열.
    대한진단검사의학회지(Korean Journal Of Legal Medicine) 22/1 :57-62,2002
  • Haplotype structure of the UDP-Glucuronosyltransferase 1A1 (UGT1A1) gene and its relationship to serum total bilirubin concentration in a male Korean population
    CLINICAL CHEMISTRY 49/12 :2078-2081,2003
  • EM 알고리듬을 이용한 단일염기변이(SNP; SINGLE NUCLEOTIDE POLYMORPHISM)군의 일배체형(HAPLOTYPE)비율 추정
    응용통계연구 16/2 :195-202,2003
  • Efficacy of imatinib mesylate (STI571) in chronic neutrophilic leukemia with t(15;19): Case report
    AMERICAN JOURNAL OF HEMATOLOGY 77/ :366-369,2004
  • Novel interleukin 1 beta polymorphism increased the risk of gastric cancer in a Korean population
    UROLOGIA INTERNATIONALIS 39/ :429-433,2004
  • CD34음성 비아세포성 성숙골수계 세포에서 비정상적인 N-CAM (CD56)항원 발현을 보인 만성골수성백혈병 1예
    대한진단검사의학회지 24/1 :1-6,2004
  • 복부전산화단층촬영에서 악성림프종 유사 소견을 보인 골수섬유증 2예: 광범위한 림프절병을 동반한 전신성홍반성낭창 연관성 자가면역성골수섬유증 및 비장내 국소성 골수외조혈을 보인 만성원발성골수섬유증
    대한진단검사의학회지 24/6 :352-357,2004
  • TP53BP2 locus is associated with gastric cancer susceptibility
    INTERNATIONAL JOURNAL OF CANCER 117/ :957-960,2005
  • 클론성 염색체이상을 보인 Epstein-Barr 바이러스 연관성 혈구탐식성림프조직구증 1예
    대한진단검사의학회지 25/2 :85-89,2005
  • Heterozygosities of 735 microsatellite markers and background linkage disequilibrium in the Korean population
    EXPERIMENTAL AND MOLECULAR MEDICINE 38/6 :662-667,2006
  • Association between a polymorphism in the lymphotoxin-
    HEADACHE 47/7 :1056-1062,2007
  • Interaction of polymorphisms in the Interleukin 1B-31 and general transcription factor 2A1 genes on the susceptibility to gastric cancer
    CYTOKINE 38/2 :96-100,2007
  • t(5;12)(q13;p13) in acute myeloid leukemia with preceding granulocytic sarcoma
    CANCER GENETICS AND CYTOGENETICS 177/2 :158-160,2007
  • Distinct linkage disequilibrium (LD) runs of single nucleotide polymorphisms and microsatellite markers; implications for use of mixed marker haplotypes in LD-based mapping
    JOURNAL OF KOREAN MEDICAL SCIENCE 22/3 :425-430,2007
  • A der(1;15)(q10;q10) is a rare nonrandom whole-arm translocation in patients with acute lymphoblastic leukemia
    CANCER GENETICS AND CYTOGENETICS 179/2 :132-135,2007
  • Effectiveness of in silico tagSNP selection method: virtual analysis of the genotype of pharmacogenetic genes
    PHARMACOGENOMICS 8/10 :1347-1357,2007
  • VERSANT Hepatitis B Virus DNA 3.0 검사와 Digene Hybrid Capture II Hepatitis B Virus DNA 검사의 비교 및 B형 간염 임상상과의 관련성
    대한진단검사의학회지(The Korean Journal of Laboratory Medicine) 27/6 :451-457,2007
  • Preceding orbital granulocytic sarcoma in an adult patient with acute myelogenous leukemia with t(8;21): a case study and review of the literature
    Cancer Genetics And Cytogenetics 185/ :51-54,2008
  • A novel de novo mutation in the serine-threonine kinase STKII gene in a Korean patient with Peutz-Jeghers syndrome
    Bmc Medical Genetics 9/ :-,2008
  • Functional haplotype Frequencies of the Interleukin-1B Promoter in the Korean Population
    Genomics & Informatics 6/1 :29-31,2008
  • Complex t(8;1.9;21)(q22;p13;q22) as a sole abnormality in a patient with de novo acute myeloid leukemia
    Cancer Genetics And Cytogenetics 185/ :109-112,2008
  • Acute erythroleukemia with der(1;7)(q10;p10) as a sole acquired abnormality after treatment with azathioprine
    Cancer Genetics And Cytogenetics 186/ :58-60,2008
  • Linear Relationship between ADAMTS13 Activity and Platelet Dynamics Even Before Severe Thrombocytopenia
    Annals Of Clinical And Laboratory Science 38/ :368-375,2008
  • 분자유전학적 방법으로 확진된 Scedosporium apiospermum 각막염 1예
    Korean Journal Of Laboratory Medicine 28/4 :307-311,2008
  • Rare translocations involving chromosome band 8p11 in myeloid neoplasms
    Cancer Genetics And Cytogenetics 186/ :127-129,2008
  • Trisomy 8 in an elderly patient with acute lymphoblastic leukemia as a sole abnormality
    Cancer Genetics And Cytogenetics 187/ :57-58,2008
  • 듀센형근이영양증 유전자의 결실 돌연변이 검출을 위한 Dual Priming Oligonucleotide 다중 PCR법의 평가
    Korean Journal Of Laboratory Medicine 28/5 :386-391,2008
  • Cataloging coding sequence variations in human genome databases
    PLoS One 3/10 :e3575-,2008
  • A novel missense MSH2 gene mutation in a patient of a Korean family with hereditary nonpolyposis colorectal cancer
    Cancer Genetics And Cytogenetics 182/2 :136-139,2008
  • Becker muscular dystrophy with r(X) carrying an out-of-frame DMD deletion
    Pediatric Neurology 39/2 :129-132,2008
  • 8번 염색체 사체성을 보인 급성단구성백혈병 1예
    Korean Journal Of Laboratory Medicine 28/4 :262-266,2008
  • Paracentric inversion-associated t(8;21) variant in de novo acute myelogenous leukemia: characteristic patterns of conventional cytogenetics, FISH, and multicolor banding analysis
    Cancer Genetics And Cytogenetics 183/1 :72-76,2008
  • MLL rearrangement with t(6;11)(q15;q23) as a sole abnormality in a patient with de novo acute myeloid leukemia: conventional cytogenetics, FISH, and multicolor FISH analyses for detection of rare MLL-related chromosome abnormalities
    Cancer Genetics And Cytogenetics 187/ :50-53,2008
  • Three new nonsense mutations of MLH1 and MSH2 genes in Korean families with hereditary nonpolyposis colorectal cancer
    Cancer Genetics and Cytogenetics 188/ :61-64,2009
  • Acute promyelocytic leukemia with insertion of PML exon 7a and partial deletion of exon 3 of RARA: a novel variant transcript related to aggressive course and not detected with real-time polymerase chain reaction analysis
    Cancer Genetics and Cytogenetics 188/ :103-107,2009
  • Biphenotypic acute leukemia with b2a2 fusion transcript and trisomy 21
    Cancer Genetics and Cytogenetics 188/ :129-131,2009
  • Acute promyelocytic leukemia in early pregnancy with translocation t(15;17) and variant PML/RARA fusion transcripts
    Cancer Genetics and Cytogenetics 188/ :48-51,2009
  • JAK2 V617F/C618R mutation in a patient with polycythemia vera: A case study and review of the literature
    Cancer Genetics and Cytogenetics 189/ :43-47,2009
  • Hereditary protein S deficiency from a novel large deletion mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification (MLPA)
    Thrombosis Research 123/5 :793-795,2009
  • Therapy-related acute lymphoblastic leukemia with t(9;22)(q34;q11.2): a case study and review of the literature
    Cancer Genetics and Cytogenetics 191/ :51-54,2009
  • A Novel PHEX Mutation in a Korean Patient with Sporadic Hypophosphatemic Rickets
    Annals Of Clinical And Laboratory Science 39/2 :182-187,2009
  • Two case reports of 1q triplication in myeloproliferative neoplasms
    Cancer Genetics and Cytogenetics 191/2 :111-112,2009
  • Concomitant t(3;3)(q21;q26), trisomy 19, and E255V mutation associated with imatinib mesylate resistance in chronic myelogenous leukemia
    Cancer Genetics and Cytogenetics 190/ :46-48,2009
  • Detection of a novel CBFB/MYH11 variant fusion transcript (K-type) showing partial insertion of exon 6 of CBFB gene using two commercially available multiplex RT-PCR kits
    Cancer Genetics and Cytogenetics 189/2 :87-92,2009
  • A tandem triplication, trp(1)(q21q32), in a patient with follicular lymphoma: a case study and review of the literature
    Cancer Genetics and Cytogenetics 189/ :127-131,2009
  • BCR/ABL rearrangement with b3a3 fusion transcript in a case of childhood acute lymphoblastic leukemia
    Cancer Genetics and Cytogenetics 189/ :132-137,2009
  • Clinical Significance of von Willebrand Factor-Cleaving Protease (ADAMTS13) Deficiency in Patients with Sepsis-Induced Disseminated Intravascular Coagulation
    Infection and Chemotherapy(감염과화학요법) 41/2 :78-81,2009
  • The First Korean Case of Camurati-Engelmann Disease (Progressive Diaphyseal Dysplasia) Confirmed by TGFB1 Gene Mutation Analysis
    Journal Of Korean Medical Science 24/ :737-740,2009
  • Detection of FUS-ERG chimeric transcript in two cases of acute myeloid leukemia with t(16;21)(p11.2;q22) with unusual characteristics
    Cancer Genetics and Cytogenetics 194/2 :111-118,2009
  • De novo interstitial direct duplication 8 (p21.3p23.1) with Pierre Robin sequence
    Korean Journal of Pediatrics 52/5 :603-606,2009
  • CASP8AP2 is a novel partner gene of MLL rearrangement with t(6;11)(q15;q23) in acute myeloid leukemia
    Cancer Genetics and Cytogenetics 195/1 :94-95,2009
  • Multiplex Ligation-dependent Probe Amplification (MLPA) 방법에 의한 디스트로핀 유전자 돌연변이 분자학적 진단의 유용성
    Journal Of The Korean Neurological Association(대한신경과학회지) 28/1 :22-26,2010
  • Three-way translocation involving MLL, MLLT1, and a novel third partner, NRXN1, in a patient with acute lymphoblastic leukemia and t(2;19;11) (p12;p13.3;q23)
    Cancer Genetics and Cytogenetics 197/1 :32-38,2010
  • Short Report: Automated Detection of Malaria-Associated Pseudoeosinophilia and Abnormal WBC Scattergram by the Sysmex XE-2100 Hematology Analyzer: A Clinical Study with 1,801 Patients and Real-Time Quantitative PCR Analysis in Vivax Malaria-Endemic
    American Journal of Tropical Medicine and Hygiene 82/3 :412-414,2010
  • Interleukin 10 polymorphisms differentially influence the risk of gastric cancer in East Asians and Caucasians
    Cytokine 51/1 :73-77,2010
  • Determination of SMN1 and SMN2 Copy Numbers in a Korean Population using Multiplex Ligation-dependent Probe Amplification
    KOREAN JOURNAL OF LABORATORY MEDICINE 30/1 :93-96,2010
  • Down-Turner Syndrome (45,X/47,XY,+21): Case Report and Review
    KOREAN JOURNAL OF LABORATORY MEDICINE 30/ :195-200,2010
  • An SRY-Deleted XXY Female Resulting from a Paternally Inherited t(Y;22)
    Annals of Clinical and Laboratory Science 40/3 :295-299,2010
  • Molecular characterization of alternative SET-NUP214 fusion transcripts in a case of acute undifferentiated leukemia
    Cancer Genetics and Cytogenetics 201/2 :73-80,2010
  • Constitutional pericentric inversion 9 and hematological disorders: a Korean tertiary institution's experience over eight years
    Annals of Clinical and Laboratory Science 40/3 :273-277,2010
  • Ambras syndrome in a Korean patient with balanced pericentric inversion (8)(p11.2q24.2)
    Journal of Dermatological Science 59/3 :204-206,2010
  • A Case of Pseudoisodicentric Chromosome 18q Detected at Prenatal Diagnosis
    KOREAN JOURNAL OF LABORATORY MEDICINE 30/4 :440-443,2010
  • Association between Survivor Motor Neuron 2 (SMN2) Gene Homozygous Deletion and Sporadic Lower Motor Neuron Disease in a Korean Population
    Annals of Clinical and Laboratory Science 40/4 :368-374,2010
  • Cytogenetic features of 5q deletion and 5q-syndrome in myelodysplastic syndrome in Korea; marker chromosomes proved to be chromosome 5 with interstitial deletion by fluorescence in situ hybridization
    Cancer Genetics and Cytogenetics 203/2 :193-202,2010
  • A Novel PTEN Mutation in a Korean Patient with Cowden Syndrome and Vascular Anomalies
    ACTA DERMATO-VENEREOLOGICA 91/1 :88-90,2011
  • Three Cases of Manifesting Female Carriers in Patients with Duchenne Muscular Dystrophy
    YONSEI MEDICAL JOURNAL 52/1 :192-195,2011
  • Cytochrome P450 2C19 Polymorphism is Associated with Reduced Clopidogrel Response in Cerebrovascular Disease
    YONSEI MEDICAL JOURNAL 52/5 :734-738,2011
  • Case Report: A Heparin Binding Site Arg79Cys Missense Mutation in the SERPINC1 Gene in a Korean Patient with Hereditary Antithrombin Deficiency
    ANNALS OF CLINICAL AND LABORATORY SCIENCE 41/1 :89-92,2011
  • Rapid Identification of Thrombocytopenia-Associated Multiple Organ Failure Using Red Blood Cell Parameters and a Volume/Hemoglobin Concentration Cytogram
    YONSEI MEDICAL JOURNAL 52/5 :845-850,2011
  • Acute Promyelocytic Leukemia with Trisomy 8 and del(9)(q22) after Treatment of Cervical Cancer with Concurrent Chemoradiotherapy: A Case Report
    ONKOLOGIE 34/7 :388-390,2011
  • LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD
    ANNALS OF DERMATOLOGY 23/2 :232-235,2011
  • DELTA NEUTROPHIL INDEX: A PROMISING DIAGNOSTIC AND PROGNOSTIC MARKER FOR SEPSIS
    SHOCK 37/ :242-246,2012
  • Homozygous SMN2 Deletion is a Major Risk Factor among Twenty-Five Korean Sporadic Amyotrophic Lateral Sclerosis Patients
    YONSEI MEDICAL JOURNAL 53/1 :53-57,2012
  • Copy number variation and gene rearrangements in CYP2D6 genotyping using multiplex ligation-dependent probe amplification in Koreans
    PHARMACOGENOMICS 13/ :963-973,2012
  • Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect
    CLINICAL GENETICS 82/2 :180-186,2012
  • CD5-negative Blastoid Variant Mantle Cell Lymphoma with Complex CCND1/IGH and MYC Aberrations
    ANNALS OF LABORATORY MEDICINE 32/1 :95-98,2012
  • ALK-positive Anaplastic Large Cell Lymphoma with TPM3-ALK Translocation
    LEUKEMIA RESEARCH 36/- :e143-e145,2012
  • Novel in-frame deletion mutation in FLCN gene in a Korean family with recurrent primary spontaneous pneumothorax
    GENE 499/2 :339-342,2012
  • A novel three-way variant t(4;17;5)(p16;q23;q31) in a case of secondary plasma cell leukemia
    LEUKEMIA RESEARCH 36/5 :101-102,2012
  • Refractory anemia with ring sideroblasts associated with marked thrombocytosis (RARS-T) harboring cytogenetic abnormality
    LEUKEMIA & LYMPHOMA 53/11 :2287-2289,2012
  • A Gly1609Arg Missense Mutation in the vWF Gene in a Korean Patient with von Willebrand Disease Type 2A
    ANNALS OF CLINICAL AND LABORATORY SCIENCE 42/1 :98-102,2012
  • A novel synonymous mutation causing complete skipping of exon 16 in the SLC26A4 gene in a Korean family with hearing loss
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 430/3 :1147-1150,2013
  • A Case of Late-Onset Li-Fraumeni?like Syndrome with Unilateral Breast Cancer
    ANNALS OF LABORATORY MEDICINE 33/3 :212-216,2013
  • Spectrum of EGFR Gene Copy Number Changes and KRAS Gene Mutation Status in Korean Triple Negative Breast Cancer Patients
    PLOS ONE 8/10 :-,2013
  • A novel F11 mutation in a Korean pediatric patient with recurrent epistaxis
    BLOOD COAGULATION & FIBRINOLYSIS 24/ :433-435,2013
  • Analysis of mutations in the XPD gene in a patient with brittle hair
    ANNALS OF CLINICAL AND LABORATORY SCIENCE 43/3 :323-327,2013
  • Delta neutrophil index discriminates true bacteremia from blood culture contamination
    CLINICA CHIMICA ACTA 427/0 :11-14,2014
  • Patterns and Biologic Features of p53 Mutation Types in Korean Breast Cancer Patients
    JOURNAL OF BREAST CANCER 17/1 :1-7,2014
  • Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.
    LARYNGOSCOPE 124/5 :E194-E202,2014
  • Differential association of RANTES-403 and IL-1B-1464 polymorphisms on histological subtypes in male Korean patients with gastric cancer
    TUMOR BIOLOGY 35/ :3765-3770,2014
  • Ethnic Differences in Genetic Susceptibility to Gastric Cancer : Allele Flips of Interleukin Gene between Asians and Non-Asians
    WORLD JOURNAL OF GASTROENTEROLOGY 20/16 :4558-4565,2014
  • Evaluation of three automated nucleic acid extraction systems for identification of respiratory viruses in clinical specimens by multiplex real-time PCR
    BIOMED RESEARCH INTERNATIONAL 2014/0 :0-0,2014
  • Prevalence of sexually transmitted infections among healthy Korean women: Implications of multiplex PCR pathogen detection on antibiotic therapy
    JOURNAL OF INFECTION AND CHEMOTHERAPY 20/ :74-76,2014
  • A Korean Patient with Lattice Corneal Dystrophy Type IV with Leu527Arg Mutation in the TGFBI Gene
    Korean Journal of Ophthalmology 28/1 :83-85,2014
  • Cys482Trp Missense Mutation in the Coagulation Factor XI Gene (F11) in a Korean Patient with Factor XI Deficiency
    ANNALS OF LABORATORY MEDICINE 34/4 :332-335,2014
  • Bone marrow hypoplasia, isochromosome 8q and deletion of chromosome 6q preceding B-cell lymphoma
    Blood Research 49/3 :200-203,2014
  • Partial gene deletions of PMP22 causing hereditary neuropathy with liability to pressure palsies
    Case Reports in Genetics[electronic resource] 2014/9460 :1-3,2014
  • Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene
    EXPERIMENTAL AND MOLECULAR MEDICINE (Korean journal of biochemistry) 47/ :1-7,2015
  • Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement
    JOURNAL OF MEDICAL GENETICS 52/10 :706-709,2015
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