A Novel Homozygous LIPA Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency

김광연 ,  김주휘 ,  이경재 외 7명

Pediatric Gastroenterology, Hepatology & Nutrition

2017 .01

Characterization and Prognostic Value of Mutations in Exons 5 and 6 of the p53 Gene in Patients with Colorectal Cancers in Central Iran

Rahim Golmohammadi ,  Mohammad J. Namazi ,  Mehdi Nikbakht 외 3명

Gut and Liver

2013 .01

Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan

Muhammad Usman Rashid ,  Faiz Ali Khan ,  Noo 외 3명

Cancer Research and Treatment

2019 .01

Characteristics of the Germline MEN1 Mutations in Korea: A Literature Review

이성철 ,  민준원 ,  김유미 외 1명

The Journal of Endocrine Surgery

2014 .01

Mutation Analysis of the Dimer Forming Domain of the Caspase 8 Gene in Oral Submucous Fibrosis and Squamous Cell Carcinomas

Menon ,  Utha ,  a 외 15명

Asian Pacific journal of cancer prevention : APJCP

2015 .01

Analysis of Dosage Mutation in PARK2 among Korean Patients with Early-Onset or Familial Parkinson’s Disease

주민경 ,  김원찬 ,  최정미 외 4명

Journal of Clinical Neurology

2014 .01

Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene

Seung Heo ,  Ja-Hyun Jang ,  Jeesuk Yu

Annals of Pediatirc Endocrinology & Metabolism

2019 .01

The Association of Acquired T790M Mutation with Clinical Characteristics after Resistance to First-Line Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor in Lung Adenocarcinoma

Yen-Hsiang Huang ,  Kuo-Hsuan Hsu ,  Jeng-Sen Tseng 외 9명

Cancer Research and Treatment

2018 .01

Association of SYK Genetic Variations with Breast Cancer Pathogenesis

Shakeel ,  Shafaq ,  Mahjabeen 외 7명

Asian Pacific journal of cancer prevention : APJCP

2013 .01

한국인 비증후군성 감각신경성 난청 환자에서 미토콘드리아 유전자 점 돌연변이의 빈도

임문정 ,  정한신 ,  오승하 외 2명

대한이비인후-두경부외과학회지

2004 .01

가족성 고콜레스테롤혈증의 스크린, 진단, 치료: 한국지질동맥경화학회 교육위원회 심포지엄

이찬주 ,  이지현 ,  최성훈 외 4명

지질·동맥경화학회지

2018 .01

Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations

조민정 ,  권순성 ,  고아라 외 8명

Journal of Clinical Neurology

2018 .01

Occult HBV among Anti-HBc Alone: Mutation Analysis of an HBV Surface Gene and Pre-S Gene

김명희 ,  강소영 ,  이우인

Yonsei Medical Journal

2017 .01

Detection of a Novel Missense Mutations in Atrichia with Papular Lesions

Debo ,  ah Lee ,  Sang-Hyun Kim 외 8명

Annals of Dermatology

2011 .01

Possible Role of a Missense Mutation of p.P167S on NOTCH3 Gene Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Byung Woo Choi ,  Seongho Pa ,  k 외 1명

Dementia and Neurocognitive Disorders(대한치매학회지)

2016 .01

Lack of Association between the S20G Missense Mutation of Amylin Gene and Essential Hypertension in Korean Population

Byung Yong Kang ,  Joon Seol Bae ,  Jae Hyoun Kim 외 7명

한국환경성돌연변이·발암원학회지

2001 .09

A Novel Missense Mutation Asp506Gly in Exon 13 of the F11 Gene in an Asymptomatic Korean Woman with Mild Factor XI Deficiency

이종호 ,  조희순 ,  현명수 외 2명

Annals of Laboratory Medicine

2011 .01

산발성 부갑상선 종양에서 MEN1 유전자의 체성 돌연변이 유형과 표현형에 대한 연구

채영수 ,  김희진 ,  김선욱 외 1명

Annals of Surgical Treatment and Research

2009 .01

Incidence, Clinical Features, and Prognostic Impact of CALR Exon 9 Mutations in Essential Thrombocythemia and Primary Myelofibrosis: An Experience of a Single Tertiary Hospital in Korea

박상혁 ,  장철훈 ,  김형회 외 9명

Annals of Laboratory Medicine

2015 .01