Dizygotic twin sisters with normosmic idiopathic hypogonadotropic hypogonadism caused by an FGFR1 gene variant

Choe Jaewon ,  Kim Jae Hyun ,  Kim Young Ah 외 1명

Annals of Pediatirc Endocrinology & Metabolism

2020 .01

Smith-Kingsmore syndrome: The first report of a Korean patient with the MTOR germline mutation c.5395G>A p.(Glu1799Lys)

Lee ,  Dohwan ,  Jang 외 3명

Journal of genetic medicine

2019 .01

CFP1 regulates PR downstream network(s) via IHH dependent smoothened signaling pathway to support uterine epithelialstromal cross-talk for embryo implantation in the uterus

Seung Chel Yang ,  Yeon Sun Kim ,  Mi 외 8명

한국실험동물학회 학술발표대회 논문집

2019 .01

Inhibition of Lipopolysaccharide-stimulated Inflammatory Cytokine Production by LY303511 in Human Macrophagic THP-1 Cells

김소희 ,  백윤웅 ,  강인철

International Journal of Oral Biology

2017 .01

Multiple Fractures in Patient with Graves’ Disease Accompanied by Isolated Hypogonadotropic Hypogonadism

이현승 ,  김지민 ,  주상현 외 3명

대한골대사학회지

2016 .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

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

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

김희남 ,  신민호 ,  이란 외 2명

전남의대학술지

2019 .01

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

이재웅 ,  박준홍 ,  최하영 외 9명

Annals of Laboratory Medicine

2017 .01

Analysis of Mutations in Epidermal Growth Factor Receptor Gene in Korean Patients with Non-small Cell Lung Cancer: Summary of a Nationwide Survey

김완섭 ,  최유덕 ,  서정욱 외 15명

Journal of Pathology and Translational Medicine

2015 .01

Frequency of K-RAS and N-RAS Gene Mutations in Colorectal Cancers in Southeastern Iran

Nase ,  i ,  Mohsen 외 11명

Asian Pacific journal of cancer prevention : APJCP

2016 .01

Endothelial nitric oxide synthase Glu298Asp gene polymorphism in the cases of idiopathic thrombocytopenic purpura

Saadet Aka ,  su ,  Feyzullah Necati A 외 3명

Blood Research

2022 .09

Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases

김민석 ,  주광식 ,  성문우 외 4명

Journal of Korean Medical Science

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

Proarrhythmogenic Effect of the L532P and N588K KCNH2 Mutations in the Human Heart Using a 3D Electrophysiological Model

Aulia Khamas Heikhmakhtia ,  Abebe Tekle Ab ,  ha 외 2명

Journal of Korean Medical Science

2020 .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

Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations

조민정 ,  권순성 ,  고아라 외 8명

Journal of Clinical Neurology

2018 .01

Comprehensive Cancer Panel Sequencing Defines Genetic Diversity and Changes in the Mutational Characteristics of Pancreatic Cancer Patients Receiving Neoadjuvant Treatment

Kyong-Ah Yoon ,  Sang Myung Woo ,  Yun-Hee Kim 외 7명

Gut and Liver

2019 .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

Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism

배지홍 ,  최홍석 ,  박소영 외 2명

Endocrinology and Metabolism

2018 .01