Frequently Delayed Diagnosis and Misdiagnosis in MYH9-related Disorders: Data from Genetically Confirmed Cases of Korean Patients

박창훈 ,  김영은 ,  이기오 외 5명

Laboratory Medicine Online

2019 .01

MYH9 nephropathy

오태훈 ,  서현정 ,  이규택 외 5명

Kidney Research and Clinical Practice

2015 .01

MPTP로 유도된 Parkinson's disease 동물 모델에서 열다한소탕 가감방 (MYH)의 신경 세포 보호 효과

고가연 ,  김윤하 ,  안택원

JSCM : Journal of Sasang constitutional medicine

2015 .01

Association of MYH9-rs3752462 polymorphisms with chronic kidney disease among clinically diagnosed hypertensive patients: a case-control study in a Ghanaian population

Owi ,  edu William K. B. A. ,  Appiah Michael 외 13명

Clinical Hypertension

2020 .01

A non-muscle myosin heavy chain 9 genetic variant is associated with graft failure following kidney transplantation

Poppelaa ,  s Felix ,  Eskanda 외 11명

Kidney Research and Clinical Practice

2023 .05

Seven Cases of Wart treated with MY1-Hwan

Ah-Ra Cho ,  San Seo ,  Yoon-Hong Yang 외 2명

대한한의학회지

2018 .12

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

Jong-Won Kim

Annals of Laboratory Medicine

2016 .01

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

김희남 ,  신민호 ,  이란 외 2명

전남의대학술지

2019 .01

A Case of Acute Myeloid Leukemia With inv(16)(p13.1q22);C BFB-MYH11 Presenting With Faggot Cells

Kim Jung-Ah ,  Shin Woo Yong ,  Kim Jieun 외 5명

Annals of Laboratory Medicine

2021 .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

Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-gene Panels: Beyond BRCA1/2

어경진 ,  김지은 ,  박형석 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

Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations

조민정 ,  권순성 ,  고아라 외 8명

Journal of Clinical Neurology

2018 .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

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

Genetic and clinical characteristics of Korean patients with neurofibromatosis type 2

Kim ,  Hye-ji ,  Seo 외 15명

Journal of genetic medicine

2017 .01

Phenotypic Features of Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Subjects with R544C Mutation

이정석 ,  KeunHyuk Ko ,  오정환 외 3명

Dementia and Neurocognitive Disorders(대한치매학회지)

2016 .01

Genotypic and Phenotypic Heterogeneity of LGMD1D due to DNAJB6 Mutations

Josef Finste ,  e

Yonsei Medical Journal

2018 .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