Piebaldism Associated with Café-au-lait Macules and Intertriginous Freckling: A Case Report and Review of the Literature

Sevgi Aka ,  su ,  Tu 외 3명

Annals of Dermatology

2019 .01

A Novel KIT INDEL Mutation in Acute Myeloid Leukemia With t(8;21)(q22;q22); RUNX1-RUNX1T1

Myung Geun Shin

Annals of Laboratory Medicine

2016 .01

Incidences and Prognostic Impact of c-KIT, WT1, CEBPA, and CBL Mutations, and Mutations Associated With Epigenetic Modification in Core Binding Factor Acute Myeloid Leukemia: A Multicenter Study in a Korean Population

Ho Jin Shin

Annals of Laboratory Medicine

2015 .01

Mutation Analysis of the Dimer Forming Domain of the Caspase 8 Gene in Oral Submucous Fibrosis and Squamous Cell Carcinomas

Menon ,  Utha ,  a 외 15명

Asian Pacific journal of cancer prevention : APJCP

2015 .01

KIT and Melanoma: Biological Insights and Clinical Implications

Hensin Tsao ,  Duc ,  Samantha Guhan

Yonsei Medical Journal

2020 .01

C-kit Mutations in Endometrial Cancer: Correlation with Tumor Histologic Type

Kafshdooz ,  Taiebeh ,  A 외 18명

Asian Pacific journal of cancer prevention : APJCP

2015 .01

Novel Pathogenic Missense NF1-Variant Associated With Cognitive Impairment

A ,  shad Faheem ,  P 외 11명

Dementia and Neurocognitive Disorders(대한치매학회지)

2024 .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 and characterisation of F9 gene in haemophilia- B population of India

Sujayend ,  a Kulka ,  ni 외 13명

Blood Research

2021 .12

Missense Mutations in the CTSC Gene in Saudi Families Segregating Papillon-Lefèvre Syndrome

Alia M. Albalawi ,  Jamil A. Hashmi ,  Fatima Alfadhli 외 4명

Annals of Dermatology

2020 .01

Association between Mutation and Expression of TP53 as a Potential Prognostic Marker of Triple-Negative Breast Cancer

김지연 ,  박경희 ,  정혜현 외 11명

Cancer Research and Treatment

2016 .01

Prediction of TP53 mutations by p53 immunohistochemistry and their prognostic significance in gastric cancer

황혜정 ,  남수경 ,  박현진 외 6명

Journal of Pathology and Translational Medicine

2020 .01

Possible Role of a Missense Mutation of p.P167S on NOTCH3 Gene Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Byung Woo Choi ,  Seongho Pa ,  k 외 1명

Dementia and Neurocognitive Disorders(대한치매학회지)

2016 .01

A Novel HNPP Phenotype in Charcot-Marie-Tooth Type 2E With c.1319C>T Missense Mutation in the NEFL Gene

최고운 ,  임지숙 ,  김명신 외 1명

Journal of Clinical Neurology

2022 .03

Novel Mutations in Cholangiocarcinoma with Low Frequencies Revealed by Whole Mitochondrial Genome Sequencing

Muisuk ,  Kanha ,  Silsi 외 16명

Asian Pacific journal of cancer prevention : APJCP

2015 .01

혈중 Estradiol 농도 측정을 위한 여러 방사면역측정 검사키트 및 화학면역발광 검사법의 성능평가 및 상호비교

최성희 ,  노경운 ,  김진의 외 4명

핵의학기술

2015 .01

Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene

최지영 ,  김송이 ,  이상은 외 1명

Yonsei Medical Journal

2018 .01

A family with X-linked Cornelia de Lange syndrome due to a novel SMC1A missense mutation identified by multi-gene panel sequencing

Hong ,  Sungwon ,  Lee 외 1명

Journal of genetic medicine

2018 .01

Amelanotic Acral Melanoma Associated with KIT Mutation and Vitiligo

김지영 ,  이지범 ,  김성진 외 3명

Annals of Dermatology

2015 .01