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

Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients

김희남 ,  신민호 ,  이란 외 2명

전남의대학술지

2019 .01

Genetic Analysis of Korean Adult Patients with Nontuberculous Mycobacteria Suspected of Primary Ciliary Dyskinesia Using Whole Exome Sequencing

이남용 ,  허희재 ,  조은혜 외 5명

Yonsei Medical Journal

2021 .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

Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib

최리화 ,  박형두 ,  고정민 외 8명

Annals of Laboratory Medicine

2017 .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

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

Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family

최예지 ,  현영세 ,  남수현 외 4명

Journal of Clinical Neurology

2015 .01

Mutation Analysis of IDH1/2 Genes in Unselected De novo Acute Myeloid Leukaemia Patients in India - Identification of A Novel IDH2 Mutation

Raveend ,  an ,  Su 외 22명

Asian Pacific journal of cancer prevention : APJCP

2015 .01

A Novel Frameshift Mutation of SLC26A4 in a Korean Family With Nonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct

보름사공 ,  백정인 ,  이규엽 외 1명

Clinical and Experimental Otorhinolaryngology

2017 .01

Siewert–Kartagener’s syndrome in a dog

Rankyung Jung ,  Jihye Choi ,  Hyeona Bae 외 3명

Journal of Veterinary Science

2023 .07

Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations

조민정 ,  권순성 ,  고아라 외 8명

Journal of Clinical Neurology

2018 .01

Genetic Profiles of Korean Patients With Glucose-6-Phosphate Dehydrogenase Deficiency

이재웅 ,  박준홍 ,  최하영 외 9명

Annals of Laboratory Medicine

2017 .01

Identification of a novel frameshift mutation (L345Sfs*15) in a Korean neonate with methylmalonic acidemia

Kim ,  Young A ,  Kim 외 5명

Journal of genetic medicine

2017 .01

Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings

김경원 ,  오지영 ,  이진성 외 6명

Yonsei Medical Journal

2024 .01

Types of 23S Ribosomal RNA Point Mutations and Therapeutic Outcomes for Helicobacter pylori

Kim Sang Yoon ,  Pa ,  k Jae Myung 외 6명

Gut and Liver

2021 .01

A Neonate with a PIGA c.1234C>T Mutation as a Novel Cause of Neonatal Early Infantile Epileptic Encephalopathy

황재균 ,  차태현 ,  장자현 외 4명

Perinatology

2016 .01

Mutation Profile of Well-Differentiated Thyroid Cancer in Asians

박영주

Endocrinology and Metabolism

2015 .01

Incidences and Prognostic Impact of c-KIT, WT1, CEBPA, and CBL Mutations, and Mutations Associated With Epigenetic Modification in Core Binding Factor Acute Myeloid Leukemia: A Multicenter Study in a Korean Population

Ho Jin Shin

Annals of Laboratory Medicine

2015 .01

Prospective Analysis of TERT Promoter Mutations in Papillary Thyroid Carcinoma at a Single Institution

Seong Woon Choi ,  Jin Wook Yi ,  Yun Suk Choi

대한외과학회 학술대회 초록집

2021 .05