An ANKRD11 exonic deletion accompanied by a congenital megacolon in an infant with KBG syndrome

Seo ,  Go Hun ,  Oh 외 16명

Journal of genetic medicine

2019 .01

Multiple Endocrine Neoplasia Type 2a Caused by Ret D631y Mutation is Prevalent in Korea and Have High Penetrance of Pheochromocytoma and Low Penetrance of Medullary Thyroid Carcinoma

JungHak Kwak ,  Hyein Kang ,  Seonghoon Kim 외 12명

대한외과학회 학술대회 초록집

2021 .11

Penetrance of Laparoscopic Inguinal Hernia Repair in Korea

Ji Hoon Kim

대한외과학회 학술대회 초록집

2019 .10

The Spectrum of Genetic Mutations in Breast Cancer

Sheikh ,  Asfandya ,  Hussain 외 20명

Asian Pacific journal of cancer prevention : APJCP

2015 .01

Clinicopathological Features of Patients with the BRCA1 c.5339T>C (p.Leu1780Pro) Variant

박형석 ,  유재민 ,  박지수 외 9명

Cancer Research and Treatment

2020 .01

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

김희남 ,  신민호 ,  이란 외 2명

전남의대학술지

2019 .01

Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations

조민정 ,  권순성 ,  고아라 외 8명

Journal of Clinical Neurology

2018 .01

A case of CHARGE syndrome featuring immunodeficiency and hypocalcemia

Son ,  Yu Yun ,  Lee 외 11명

Journal of genetic 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

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

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

Concurrent SHORT syndrome and 3q duplication syndrome

Boaz ,  Alexande ,  M. 외 8명

Journal of genetic medicine

2019 .01

Identification of Somatic KRAS Mutation in a Korean Baby with Nevus Sebaceus Syndrome

김성우 ,  기창석 ,  전가원 외 2명

Annals of Laboratory Medicine

2015 .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

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

Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test

신희철 ,  이한별 ,  유태경 외 10명

Cancer Research and Treatment

2020 .01

Vascular compression syndromes: a pictorial review

Renato Fa ,  ina ,  Piet 외 15명

ULTRASONOGRAPHY

2022 .07

Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome

Jong-Won Kim

Annals of Laboratory Medicine

2016 .01

Mutation Cases in the Korean Population using 23 Autosomal STR Loci Analysis

Jeongyong Kim ,  Hyojeong Kim ,  Ja Hyun Lee 외 2명

대한의생명과학회지

2021 .06

Myelodysplastic syndromes and overlap syndromes

Yoon Hwan Chang

Blood Research

2021 .04