PTCH2 유전자 변이에 의한 Gorlin-Goltz 증후군 진단을 Whole Exome Sequencing을 통해 밝힌 한국인에서의 첫 증례

권원경 ,  김형태 ,  윤영철 외 2명

Laboratory Medicine Online

2020 .01

Novel Patched 1 Mutations in Patients with Gorlin-Goltz Syndrome Strategic Treated by Smoothened Inhibitor

Shih-Wen Hsu ,  Chien-yio Lin ,  Chuang-Wei Wang 외 3명

Annals of Dermatology

2018 .01

Unusual Neurological Presentation of Nevoid Basal Cell Carcinoma Syndrome (Gorlin-Goltz Syndrome)

Manuela Pennisi ,  Giuseppe Lanza ,  Ma 외 8명

Journal of Clinical Neurology

2017 .01

Multidisciplinary approach to Gorlin-Goltz syndrome: from diagnosis to surgical treatment of jawbones

F ,  ancesco Spada ,  i 외 11명

Maxillofacial Plastic Reconstructive Surgery

2022 .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

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

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

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 atypical hemolytic uremic syndrome associated with the c.1273C＞T mutation in the complement C3 gene

Hye Jeong Cho ,  Jung O Kim ,  허지영 외 4명

Blood Research

2016 .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

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

김희남 ,  신민호 ,  이란 외 2명

전남의대학술지

2019 .01

A case of CHARGE syndrome featuring immunodeficiency and hypocalcemia

Son ,  Yu Yun ,  Lee 외 11명

Journal of genetic medicine

2015 .01

The Progression of SARS Coronavirus 2 (SARS-CoV2): Mutation in the Receptor Binding Domain of Spike Gene

Sinae Kim ,  Jong Ho Lee ,  Siyoung Lee 외 21명

Immune Network

2020 .10

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

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

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

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

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

Sujayend ,  a Kulka ,  ni 외 13명

Blood Research

2021 .12

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

Gene variant profiles and tumor metabolic activity as measured by FOXM1 expression and glucose uptake in lung adenocarcinoma

Ashley Goodman ,  Waqas Mahmud ,  Lela Buckingham

Journal of Pathology and Translational Medicine

2020 .01