- About Synapse
- How to Participate
- KAMJE Databases
- About Synapse
- How to Participate
- KAMJE Databases
| 1 |
First Successful Application of Preimplantation Genetic Diagnosis for Lethal Neonatal Rigidity and Multifocal Seizure Syndrome in Korea: A Case Report
Gyeong Eun Yeom, Young Hwa Jung, Soo Yeon Kim, Sun Ah Choi, Hunmin Kim, Chang Won Choi
Neonatal Med.2022;29(4):141-148. Published online 2022 November 30
DOI: http://dx.doi.org/10.5385/nm.2022.29.4.141
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| 2 |
Comprehensive Molecular Characterization of Soft Tissue Sarcoma for Prediction of Pazopanib-Based Treatment Response
Jung Yong Hong, Hee Jin Cho, Kum-Hee Yun, Young Han Lee, Seung Hyun Kim, Wooyeol Baek, Sang Kyum Kim, Yurimi Lee, Yoon-La Choi, Minsuk Kwon, Hyo Song Kim, Jeeyun Lee
Cancer Res Treat.2023;55(2):671-683. Published online 2022 September 27
DOI: http://dx.doi.org/10.4143/crt.2022.251
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| 3 |
Genetic analysis using whole-exome sequencing in pediatric chronic kidney disease: a single center's experience
Hyeonju Lee, Jeesu Min, Yo Han Ahn, Hee Gyung Kang
Child Kidney Dis.2022;26(1):40-45. Published online 2022 June 23
DOI: http://dx.doi.org/10.3339/ckd.22.025
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| 4 |
Hyaluronan Synthase 1: A Novel Candidate Gene Associated With Late-Onset Non-syndromic Hereditary Hearing Loss
Alphonse Umugire, Sungsu Lee, Chang-Joon Lee, Youngmi Choi, Taekyoung Kim, Hyong-Ho Cho
Clin Exp Otorhinolaryngol.2022;15(3):220-229. Published online 2022 April 8
DOI: http://dx.doi.org/10.21053/ceo.2022.00038
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| 5 |
Morning Glory Syndrome associated with Autosomal Dominant Alport Syndrome with a Heterozygous So Jeong Kim, Jeong Eun Lee, Hyun Duck Kwak, Mi Seon Kang, Seong Ah Yu, Go Hun Seo, Seung Hwan Oh, Woo Yeong Chung
Child Kidney Dis.2021;25(2):128-132. Published online 2021 December 31
DOI: http://dx.doi.org/10.3339/jkspn.2021.25.2.128
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| 6 |
Whole-Exome Sequencing in Papillary Microcarcinoma: Potential Early Biomarkers of Lateral Lymph Node Metastasis
Mijin Kim, Chae Hwa Kwon, Min Hee Jang, Jeong Mi Kim, Eun Heui Kim, Yun Kyung Jeon, Sang Soo Kim, Kyung-Un Choi, In Joo Kim, Meeyoung Park, Bo Hyun Kim
Endocrinol Metab.2021;36(5):1086-1094. Published online 2021 October 28
DOI: http://dx.doi.org/10.3803/EnM.2021.1132
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| 7 |
Ki Teak Hong, Byung Chan Lim, Jin Soo Moon, Jae Sung Ko
Korean J Gastroenterol.2021;77(5):248-252. Published online 2021 May 25
DOI: http://dx.doi.org/10.4166/kjg.2020.170
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| 8 |
Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma
Soo Hyun Seo, Jung Hee Kim, Man Jin Kim, Sung Im Cho, Su Jin Kim, Hyein Kang, Chan Soo Shin, Sung Sup Park, Kyu Eun Lee, Moon-Woo Seong
Endocrinol Metab.2020;35(4):909-917. Published online 2020 December 23
DOI: http://dx.doi.org/10.3803/EnM.2020.756
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| 9 |
A new type of oculocutaneous albinism with a novel Sang Yoon Lee, Eun Joo Lee, Jun Chul Byun, Kyung Mi Jang, Sae Yoon Kim, Su-Kyeong Hwang
Yeungnam Univ J Med.2020;38(2):160-164. Published online 2020 August 3
DOI: http://dx.doi.org/10.12701/yujm.2020.00339
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| 10 |
Genetic Alterations in Preinvasive Lung Synchronous Lesions
Soyeon Ahn, Jisun Lim, Soo Young Park, Hyojin Kim, Hyun Jung Kwon, Yeon Bi Han, Choon-Taek Lee, Sukki Cho, Jin-Haeng Chung
Cancer Res Treat.2020;52(4):1120-1134. Published online 2020 June 5
DOI: http://dx.doi.org/10.4143/crt.2020.307
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| 11 |
A Preliminary Study of the Association between Jeong Jin Park, Bong Jun Kim, Dong Hyuk Youn, Hyuk Jai Choi, Jin Pyeong Jeon
J Korean Neurosurg Soc.2020;63(5):539-549. Published online 2020 May 8
DOI: http://dx.doi.org/10.3340/jkns.2019.0225
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| 12 |
Whole Exome Sequencing in the Accurate Diagnosis of Bilateral Breast Cancer: a Case Study
Xiaoling Li, Mei Yang, Qiangzu Zhang, Yanhui Fan, Teng Zhu, Fulong Chen, Kun Wang
J Breast Cancer.2019;22(1):131-140. Published online 2019 February 2
DOI: http://dx.doi.org/10.4048/jbc.2019.22.e10
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| 13 |
Genetic Profiles Associated with Chemoresistance in Patient-Derived Xenograft Models of Ovarian Cancer
Lan Ying Li, Hee Jung Kim, Sun Ae Park, So Hyun Lee, Lee Kyung Kim, Jung Yun Lee, Sunghoon Kim, Young Tae Kim, Sang Wun Kim, Eun Ji Nam
Cancer Res Treat.2019;51(3):1117-1127. Published online 2018 November 6
DOI: http://dx.doi.org/10.4143/crt.2018.405
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| 14 |
Genetic Analysis of Seon Young Kim, Younghak Lee, Yea Eun Kang, Ji Min Kim, Kyong Hye Joung, Ju Hee Lee, Koon Soon Kim, Hyun Jin Kim, Bon Jeong Ku, Minho Shong, Hyon-Seung Yi
Endocrinol Metab.2018;33(3):380-386. Published online 2018 September 18
DOI: http://dx.doi.org/10.3803/EnM.2018.33.3.380
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| 15 |
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
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| 16 |
Association of CDKAL1 Polymorphisms with Early-Onset Atopic Dermatitis in Koreans
Won Il Heo, Kui Young Park, Mi-Kyung Lee, Ju Hee Kim, Nam Ju Moon, Seong Jun Seo
Ann Dermatol.2018;30(3):276-283. Published online 2018 April 23
DOI: http://dx.doi.org/10.5021/ad.2018.30.3.276
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| 17 |
Whole Exome Sequencing in a Korean Child with Joubert Syndrome-related Disorders
Jong Hwa Lee, In Kyung Oh, Mi Jin Yoon, Kui Hyun Yoon
Lab Med Online.2017;7(1):45-48. Published online 2017 January 17
DOI: http://dx.doi.org/10.3343/lmo.2017.7.1.45
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| 18 |
Novel Pathogenic Variant (c.580C>T) in the Rihwa Choi, Hyung-Doo Park, Mina Yang, Chang-Seok Ki, Soo-Youn Lee, Jong-Won Kim, Junghan Song, Yun Sil Chang, Won Soon Park
Ann Lab Med.2017;37(1):58-62. Published online 2016 November 1
DOI: http://dx.doi.org/10.3343/alm.2017.37.1.58
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| 19 |
Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing
Min Kyeong Kim, Soo Heon Kwak, Shinae Kang, Hye Seung Jung, Young Min Cho, Seong Yeon Kim, Kyong Soo Park
Diabetes Metab J.2015;39(5):439-443. Published online 2015 October 22
DOI: http://dx.doi.org/10.4093/dmj.2015.39.5.439
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| 20 |
Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing
Hyung Jun Park, Young-Chul Choi, Seung Min Kim, Se Hoon Kim, Young Bin Hong, Bo Ram Yoon, Ki Wha Chung, Byung-Ok Choi
J Clin Neurol.2015;11(2):183-187. Published online 2014 November 11
DOI: http://dx.doi.org/10.3988/jcn.2015.11.2.183
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