Desmoid Fibromatosis in the Multifidus Muscle Misdiagnosed as Intramuscular Schwannoma by Incisional Biopsy: A Case Report

Jae Hun Lee ,  Sung Hwa Paeng ,  Hwa Jin Cho 외 2명

Korean Journal of Neurotrauma

2021 .10

Palmar and plantar fibromatosis: a review

B ,  ian D. Stewa ,  t 외 2명

Journal of Pathology and Translational Medicine

2021 .01

Genetic Characterization of Molecular Targets in Korean Patients with Gastrointestinal Stromal Tumors

Jeong Goo Kim ,  Joonhong Pa ,  k 외 4명

Journal of Gastric Cancer

2020 .01

Variants of Lipolysis-Related Genes in Korean Patients with Very High Triglycerides

이찬주 ,  엄지윤 ,  엄지윤 외 6명

Yonsei Medical Journal

2018 .01

Epilepsy syndromes during the first year of life and the usefulness of an epilepsy gene panel

Lee ,  Eun Hye

Clinical and Experimental Pediatrics

2018 .01

Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases

김민석 ,  주광식 ,  성문우 외 4명

Journal of Korean Medical Science

2019 .01

경추 가로돌기 인접한 곳에서 발생한 유섬유형 섬유종증 1예

임채동 ,  김진평 ,  우승훈

대한이비인후-두경부외과학회지

2018 .01

Long-Term Outcomes of Genetic Parkinson’s Disease

Jan O. Aasly

Journal Of Movement Disorders

2020 .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

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

이재웅 ,  박준홍 ,  최하영 외 9명

Annals of Laboratory Medicine

2017 .01

Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses

김희정 ,  김순기 ,  유기영 외 5명

Annals of Laboratory Medicine

2019 .01

BRCA1 Gene Mutation Screening for the Hereditary Breast and/or Ovarian Cancer Syndrome in Breast Cancer Cases: a First High Resolution DNA Melting Analysis in Indonesia

Mundhofi ,  Fa ,  maditya EP 외 11명

Asian Pacific journal of cancer prevention : APJCP

2016 .01

Status of the SARS-CoV-2 Mutant Virus (Delta, Omicron) outbreak in Chungcheongnamdo, Korea in Early 2022

KyungA Yun ,  Ji Hee Kim ,  Na Hee Kwon 외 3명

JOURNAL OF BACTERIOLOGY AND VIROLOGY

2022 .12

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

Association Between CLOCK Gene Variants and Restless Legs Syndrome in Koreans

Seo Jae Eun ,  Yeom Ji Won ,  Jeon Sehyun 외 3명

PSYCHIATRY INVESTIGATION

2021 .11

Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders

Mi-Ae Jang

Annals of Laboratory Medicine

2019 .01

Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations

조민정 ,  권순성 ,  고아라 외 8명

Journal of Clinical Neurology

2018 .01

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

김희남 ,  신민호 ,  이란 외 2명

전남의대학술지

2019 .01

Mutation analysis and characterisation of F9 gene in haemophilia- B population of India

Sujayend ,  a Kulka ,  ni 외 13명

Blood Research

2021 .12

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