387 results  1 of 20 

1 Update on Monogenic Diabetes in Korea
Ye Seul Yang, Soo Heon Kwak, Kyong Soo Park
Diabetes Metab J.2020;44(5):627-639.   Published online 2020 October 21     DOI: http://dx.doi.org/10.4093/dmj.2020.0214
2 Prevalence of tumor BRCA1 and BRCA2 dysfunction in unselected patients with ovarian cancer
Roshni D. Kalachand, Ciaran O’Riain, Sinead Toomey, Aoife Carr, Kirsten M. Timms, Sharon O’Toole, Stephen Madden, Mark Bates, John J. O’Leary, Noreen Gleeson, Dearbhaile O’Donnell, Liam Grogan, Oscar Breathnach, Angela Farrelly, Britta Stordal, Bryan T. Hennessy
Obstet Gynecol Sci.2020;63(5):643-654.   Published online 2020 September 2     DOI: http://dx.doi.org/10.5468/ogs.20033
3 Expressions of miRNAs in Papillary Thyroid Carcinoma and Their Associations with the BRAFV600E Mutation and Clinicopathological Features
Song I Yang, Young Sik Choi
Kosin Med J.2020;35(1):1-14.   Published online 2020 June 30     DOI: http://dx.doi.org/10.7180/kmj.2020.35.1.1
4 Proarrhythmogenic Effect of the L532P and N588K KCNH2 Mutations in the Human Heart Using a 3D Electrophysiological Model
Aulia Khamas Heikhmakhtiar, Abebe Tekle Abrha, Da Un Jeong, Ki Moo Lim
J Korean Med Sci.2020;35(29):e238.  Published online 2020 June 26     DOI: http://dx.doi.org/10.3346/jkms.2020.35.e238
5 A Rare Case of Essential Thrombocythemia with Coexisting JAK2 and MPL Driver Mutations
Mi-Ae Jang, Mi Yeon Seo, Kyoung Jin Choi, Dae-Sik Hong
J Korean Med Sci.2020;35(23):e168.  Published online 2020 April 27     DOI: http://dx.doi.org/10.3346/jkms.2020.35.e168
6 Rare PTH Gene Mutations Causing Parathyroid Disorders: A Review
Joon-Hyop Lee, Munkhtugs Davaatseren, Sihoon Lee
Endocrinol Metab.2020;35(1):64-70.   Published online 2020 March 19     DOI: http://dx.doi.org/10.3803/EnM.2020.35.1.64
7 Comparison of antigenic mutation during egg and cell passage cultivation of H3N2 influenza virus
Yong Wook Park, Yun Hee Kim, Hwan Ui Jung, Oh Seok Jeong, Eun Ji Hong, Hun Kim, Jae Il Lee
Clin Exp Vaccine Res.2020;9(1):56-63.   Published online 2020 January 31     DOI: http://dx.doi.org/10.7774/cevr.2020.9.1.56
8 Construction and immunization with double mutant ΔapxIBD Δpnp forms of Actinobacillus pleuropneumoniae serotypes 1 and 5
Hoai Thu Dao, Quang Lam Truong, Van Tan Do, Tae-Wook Hahn
J Vet Sci.2020;21(2):e20.  Published online 2020 January 3     DOI: http://dx.doi.org/10.4142/jvs.2020.21.e20
9 Genetic Characterization of Molecular Targets in Korean Patients with Gastrointestinal Stromal Tumors
Joonhong Park, Han Mo Yoo, Hae Jung Sul, Soyoung Shin, Seung Woo Lee, Jeong Goo Kim
J Gastric Cancer.2020;20(1):29-40.   Published online 2019 December 27     DOI: http://dx.doi.org/10.5230/jgc.2020.20.e2
10 A Novel VPS33B Variant Identified by Exome Sequencing in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome
Min Ju Lee, Chae Ri Suh, Jeong Hee Shin, Jee Hyun Lee, Yoon Lee, Baik-Lin Eun, Kee Hwan Yoo, Jung Ok Shim
Pediatr Gastroenterol Hepatol Nutr.2019;22(6):581-587.   Published online 2019 November 11     DOI: http://dx.doi.org/10.5223/pghn.2019.22.6.581
11 Discordance of Epidermal Growth Factor Receptor Mutation between Brain Metastasis and Primary Non-Small Cell Lung Cancer
Kyung-Min Kim, Seung-Hoon Lee, Seung-Min Kim, Nae-Yu Kim, Ho-Shin Gwak, Sang-Hoon Shin, Ji-Woong Kwon, Heon Yoo
Brain Tumor Res Treat.2019;7(2):137-140.   Published online 2019 October 29     DOI: http://dx.doi.org/10.14791/btrt.2019.7.e44
12 Association between BRAFV600E Mutations and Clinicopathological Features of Papillary Thyroid Microcarcinoma (PTMC)
Sung Min Lee, Cho Rok Lee, Sang-Wook Kang, Jandee Lee, Jong Ju Jeong, Kee-Hyun Nam, Woong Youn Chung, Cheong Soo Park
J Endocr Surg.2019;19(3):76-84.   Published online 2019 September 25     DOI: http://dx.doi.org/10.16956/jes.2019.19.3.76
13 A novel compound heterozygous mutation in DNAH5 in a Korean neonate with primary ciliary dyskinesia
Na-Won Lee, Ji Eun Jeong, Yoon Young Jang, Hai Lee Chung
Allergy Asthma Respir Dis.2019;7(3):165-169.   Published online 2019 July 30     DOI: http://dx.doi.org/10.4168/aard.2019.7.3.165
14 Expression of NF2 Modulates the Progression of BRAFV600E Mutated Thyroid Cancer Cells
Mi-Hyeon You, Min Ji Jeon, Tae Yong Kim, Won Bae Kim, Young Kee Shong, Won Gu Kim
Endocrinol Metab.2019;34(2):203-212.   Published online 2019 June 24     DOI: http://dx.doi.org/10.3803/EnM.2019.34.2.203
15 Impact of BRCA1/2 gene mutations on survival of patients with pancreatic cancer: A case-series analysis
Ernesto Barzola Navarro, Emilio Vicente López, Yolanda Quijano, Riccardo Caruso, Valentina Ferri, Hipolito Durand, Isabel Fabra Cabrera, Eduardo Diaz Reques, Benedetto Ielpo, Anastasiia Yuriyivna Glagolieva, Carlos Plaza
Ann Hepatobiliary Pancreat Surg.2019;23(2):200-205.   Published online 2019 May 31     DOI: http://dx.doi.org/10.14701/ahbps.2019.23.2.200
16 Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients
Hee Nam Kim, Min-Ho Shin, Ran Lee, Min-Ho Park, Sun-Seog Kweon
Chonnam Med J.2019;55(2):99-103.   Published online 2019 May 23     DOI: http://dx.doi.org/10.4068/cmj.2019.55.2.99
17 Comparison of cobas EGFR Mutation Test v2 and PANAMutyper-R-EGFR for Detection and Semi-Quantification of Epidermal Growth Factor Receptor Mutations in Plasma and Pleural Effusion Supernatant
A-Lum Han, Hak-Ryul Kim, Keum-Ha Choi, Ki-Eun Hwang, Mengyu Zhu, Yuya Huang, Moxin Wu, Young-Jin Lee, Min-Cheol Park, Ji-Hyun Cho, Do-Sim Park
Ann Lab Med.2019;39(5):478-487.   Published online 2019 April 26     DOI: http://dx.doi.org/10.3343/alm.2019.39.5.478
18 Clonal Cell Proliferation in Paroxysmal Nocturnal Hemoglobinuria: Evaluation of PIGA Mutations and T-cell Receptor Clonality
Joonhong Park, Myungshin Kim, Yonggoo Kim, Kyungja Han, Nack-Gyun Chung, Bin Cho, Sung-Eun Lee, Jong Wook Lee
Ann Lab Med.2019;39(5):438-446.   Published online 2019 April 26     DOI: http://dx.doi.org/10.3343/alm.2019.39.5.438
19 Progression of GNE Myopathy Based on the Patient-Reported Outcome
Young-Eun Park, Dae-Seong Kim, Young-Chul Choi, Jin-Hong Shin
J Clin Neurol.2019;15(3):275-284.   Published online 2019 April 2     DOI: http://dx.doi.org/10.3988/jcn.2019.15.3.275
20 SETD2, GIGYF2, FGFR3, BCR, KMT2C, and TSC2 as candidate genes for differentiating multilocular cystic renal neoplasm of low malignant potential from clear cell renal cell carcinoma with cystic change
Sung Han Kim, Weon Seo Park, Jinsoo Chung
Investig Clin Urol.2019;60(3):148-155.   Published online 2019 April 1     DOI: http://dx.doi.org/10.4111/icu.2019.60.3.148

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