- About Synapse
- How to Participate
- KAMJE Databases
- About Synapse
- How to Participate
- KAMJE Databases
| 1 |
Tubulopathy: the clinical and genetic approach in diagnosis
Jinwoon Joung, Heeyeon Cho
Child Kidney Dis.2023;27(1):11-18. Published online 2023 May 16
DOI: http://dx.doi.org/10.3339/ckd.23.001
  |
|
| 2 |
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
|
|
| 3 |
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
|
|
| 4 |
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
|
|
| 5 |
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
|
|
| 6 |
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
|
|
| 7 |
Clinical Manifestations and Genetic Analysis of 5 Korean Choroideremia Patients Initially Diagnosed With Retinitis Pigmentosa
Jin Ha Kim, Jung Woo Han, Eun Woo Choi, Ji Hong Bang, Hee Jeong Shin, Mi-Ae Jang, Jong-Young Lee, Jeong Nam Choi, Hun Soo Chang, Tae Kwann Park
J Korean Med Sci.2021;37(3):e5. Published online 2021 November 30
DOI: http://dx.doi.org/10.3346/jkms.2022.37.e5
|
|
| 8 |
Genomic Sequencing for Bladder Urothelial Carcinoma and Its Clinical Implications for Immunotherapy
Ryul Kim, Jung Yong Hong, Jeeyun Lee, Ghee Young Kwon, Byong Chang Jeong, Se Hoon Park
Cancer Res Treat.2022;54(3):894-906. Published online 2021 November 17
DOI: http://dx.doi.org/10.4143/crt.2021.854
|
|
| 9 |
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
|
|
| 10 |
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
|
|
| 11 |
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
|
|
| 12 |
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
|
|
| 13 |
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
|
|
| 14 |
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
|
|
| 15 |
Prognostic Value of Miao Xue, Yanqin Wu, Wenzhe Fan, Jian Guo, Jialiang Wei, Hongyu Wang, Jizhou Tan, Yu Wang, Wang Yao, Yue Zhao, Jiaping Li
Cancer Res Treat.2020;52(3):925-937. Published online 2020 March 30
DOI: http://dx.doi.org/10.4143/crt.2019.533
|
|
| 16 |
Diagnostic Odyssey and Application of Targeted Exome Sequencing in the Investigation of Recurrent Infant Deaths in a Syrian Consanguineous Family: a Case of Spinal Muscular Atrophy with Respiratory Distress Type 1
Young A Kim, Hye Young Jin, Yoo-Mi Kim
J Korean Med Sci.2019;34(9):e54. Published online 2019 February 7
DOI: http://dx.doi.org/10.3346/jkms.2019.34.e54
|
|
| 17 |
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
|
|
| 18 |
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
|
|
| 19 |
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
|
|
| 20 |
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
|
|