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1 Neurofibromatosis Type I: Case Reports of Two Novel Mutations
Ho Jong Lee, Ung Jun Kim, Woo Shin Kim, Young Jin Ko, Geon Park, Sook Jin Jang, Seong-Ho Kang
Lab Med Online.2021;11(2):135-138.   Published online 2021 April 1     DOI: http://dx.doi.org/10.47429/lmo.2021.11.2.135
      
2 Two Compound Heterozygous Were Identified in SLC26A4 Gene in Two Chinese Families With Enlarged Vestibular Aqueduct
Yongbo Yu, Yang Yang, Jie Lu, Yaqiong Jin, Yeran Yang, Enyu Hong, Jin Shi, Feng Chen, Shujing Han, Ping Chu, Yongli Guo, Xin Ni
Clin Exp Otorhinolaryngol.2019;12(1):50-57.   Published online 2018 August 9     DOI: http://dx.doi.org/10.21053/ceo.2018.00213
      
3 Founder Mutations for Early Onset Melanoma as Revealed by Whole Exome Sequencing Suggests That This is Not Associated with the Increasing Incidence of Melanoma in Poland
Tadeusz Dębniak, Rodney J Scott, Rodney A Lea, Bohdan Górski, Bartłomiej Masojć, Cezary Cybulski, Andrzej Kram, Romuald Maleszka, Tomasz Gromowski, Katarzyna Paszkowska-Szczur, Aniruddh Kashyap, Marcin R. Lener, Karolina Malińska, Emilia Rogoża, Dawid Murawa, Helena Rudnicka, Jakub Deptuła, Jan Lubiński
Cancer Res Treat.2019;51(1):337-344.   Published online 2018 May 14     DOI: http://dx.doi.org/10.4143/crt.2018.157
      
4 Single Nucleotide Deletion Mutation of KCNH2 Gene is Responsible for LQT Syndrome in a 3-Generation Korean Family
Jong Keun Park, Yong-Seog Oh, Jee-hyun Choi, Sungjoo Kim Yoon
J Korean Med Sci.2013;28(9):1388-1393.   Published online 2013 August 28     DOI: http://dx.doi.org/10.3346/jkms.2013.28.9.1388
      

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