Wide phenotypic variations in Charcot-Marie-Tooth 1A neuropathy with rare copy number variations on 17p12

Kanwal ,  Sumai ,  a 외 14명

Animal cells and systems

2011 .01

샤르코-마리-투스병 1A형(CMT1A)의 가족내 표현형적 이질성과 MIR149 SNP에 대한 연관성 연구

최유진 ,  이아진 ,  남수현 외 2명

생명과학회지

2019 .07

Structural Bioinformatics Analysis of Disease-related Mutations

Pa ,  k ,  Seong-Jin 외 7명

Genomics & informatics

2008 .01

A Mutation Screening for Fabry Disease : Detection of Mutation in the $\alpha$-galactosidase A Gene

Pa ,  k ,  Ki-Bum 외 8명

한국동물학회 학술대회

1997 .01

Distal hereditary motor neuropathy in Korean patients with asmall heat shock protein 27 mutation

정기화 ,  Sun Young Cho ,  Su Jin Hwang 외 7명

Experimental and Molecular Medicine

2008 .01

Genotype Distribution of the Mutations in the Coagulation Factor V Gene in the Korean Population: Absence of Its Association with Coronary Artery Disease

Hong ,  Seung-Ho

Korean journal of biological sciences

2003 .01

Detection of Lamivudine-Resistant Mutations of HBV DNA Polymerase Gene Using PCR-Direct Sequencing

이경옥 ,  이혜정 ,  변지영 외 6명

대한임상검사과학회지

2006 .01

A MELAS syndrome family harboring two mutations inmitochondrial genome

최병옥 ,  Jung Hee Hwang ,  Joonki Kim 외 6명

Experimental and Molecular Medicine

2008 .01

Detection of Human Cytomegalovirus UL97 D605E Mutation in Korean Stem Cell Transplantation Recipients and Donors

이규철 ,  최수미 ,  이찬희 외 3명

Journal of Microbiology and Biotechnology

2013 .01

Hereditary neuropathy with liability to pressure palsies (HNPP) patients of Korean ancestry with chromosome 17p11.2-p12 deletion

김승민 ,  최병옥 ,  윤유수 외 4명

Experimental and Molecular Medicine

2004 .01

MAP: Mutation Arranger for Defining Phenotype-Related Single-Nucleotide Variant

Baek ,  In-Pyo ,  Jeong 외 5명

Genomics & informatics

2014 .01

Population-Based Newborn Hearing Impairment Screening Test Using GJB2 Mutation Analysis

이경옥 ,  정수진 ,  변지영 외 4명

대한임상검사과학회지

2007 .01

Effects of Somatic Mutations Are Associated with SNP in the Progression of Individual Acute Myeloid Leukemia Patient: The Two-Hit Theory Explains Inherited Predisposition to Pathogenesis

Pa ,  k ,  Soyoung 외 4명

Genomics & informatics

2013 .01

Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases

최병옥 ,  Jung Hee Hwang ,  Eun Min Cho 외 6명

Experimental and Molecular Medicine

2010 .01

Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene

김주원 ,  최재영 ,  이민구 외 2명

Experimental and Molecular Medicine

2015 .01

Predisposition of genetic disease by modestly decreasedexpression of GCH1 mutant allele

Yo-Sik Kim ,  최용복 ,  Jeong-Hwa Lee 외 6명

Experimental and Molecular Medicine

2008 .01

[Family Problems and Counseling] What is Happening to Japanese Families Today : Recent Family Changes and Family Problems in Japan

Kinuyo KUROKAWA

가정과삶의질학회 학술발표대회 자료집

2011 .05

한국 가족의 전망 및 발전적 모델

박미령

한국지역사회생활과학회지

1994 .04

Detection of p53 Gene Mutations from Cervical Cancer Patients in Korea

Hwang ,  Hye-Suk ,  Hwang 외 7명

한국동물학회 학술대회

1999 .01

Comparison of Full Genome Sequences Between Two Hepatitis B Virus StrainsWith or Without preC Mutation (A1896) from a Single Korean HepatocellularCarcinoma Patient

KIM ,  HONG ,  YOUNGMEE JEE 외 8명

Journal of Microbiology and Biotechnology

2007 .01