BetterScholar BetterScholar
8
Role
Title
Level Year L/R
🐜 CLCN2 Chloride Channel Mutations in Familial Hyperaldosteronism Type II
29 auth. U. Scholl, Gabriel StΓΆlting, J. Schewe, A. Thiel, Hua Leonhard Tan, C. Nelson-Williams, A. Vichot, S. Jin, E. Loring, Verena Untiet, Taekyeong Yoo, Jungmin Choi, Shengxin Xu, A. Wu, Marieluise Kirchner, ... Philipp Mertins, L. Rump, A. Onder, Cory Gamble, D. Mckenney, R. Lash, Deborah P. Jones, G. Chune, P. Gagliardi, Murim Choi, R. Gordon, M. Stowasser, C. Fahlke, R. Lifton
7 2017
7
🐜
🐜 Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes
10 auth. Jin Sook Lee, Taekyeong Yoo, Moses Lee, Youngha Lee, Eunyoung Jeon, S. Kim, ... B. Lim, Ki Joong Kim, Murim Choi, J. Chae
5 2020
5
🐜
🐜 Loss or Gain of Function Mutations in ACOX1 Cause Axonal Loss Via Different Mechanisms
33 auth. Hyung-Lok Chung, M. Wangler, P. Marcogliese, Juyeon Jo, Thomas Ravenscoft, Lita Duraine, Sina Sadeghzadeh, David Li-Kroeger, R. Schmidt, A. Pestronk, J. Rosenfeld, L. Burrage, Mitchell J. Herndon, Shan Chen, Undiagnosed Diseases Network Group, ... A. Shillington, Marissa Vawater-Lee, R. Hopkin, Jackeline Rodriguez‐Smith, M. Henrickson, Brendan H. Lee, A. Moser, Richard O Jones, Taekyeong Yoo, S. Mar, Murim Choi, R. Bucelli, Shinya Yamamoto, Hyun Kyoung Lee, C. Prada, J. Chae, T. Vogel, H. Bellen
5 2019
5
🐜
🐜 Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms
34 auth. Hyung-Lok Chung, M. Wangler, P. Marcogliese, Juyeon Jo, Thomas A. Ravenscroft, Zhongyuan Zuo, Lita Duraine, Sina Sadeghzadeh, David Li-Kroeger, Robert E. Schmidt, A. Pestronk, Jill A. Rosenfeld, Lindsay C Burrage, Mitchell J. Herndon, Shan Chen, ... A. Shillington, M. Vawter-Lee, R. Hopkin, Jackeline Rodriguez‐Smith, Michael Henrickson, Brendan Lee, Ann B Moser, Richard O. Jones, Paul A. Watkins, Taekyeong Yoo, S. Mar, Murim Choi, R. Bucelli, Shinya Yamamoto, Hyun Kyoung Lee, Carlos E. Prada, Jong-Hee Chae, T. Vogel, Hugo J. Bellen
5 2020
5
🐜
🦁 Disease-specific eQTL screening reveals an anti-fibrotic effect of AGXT2 in nonalcoholic fatty liver disease
17 auth. Taekyeong Yoo, S. Joo, Hyo Jung Kim, Hyun Young Kim, H. Sim, Jieun Lee, Hee-Hoon Kim, Sunhee Jung, Youngha Lee, O. Jamialahmadi, ... S. Romeo, W. Jeong, G. Hwang, K. Kang, Jae Woo Kim, Won Kim, Murim Choi
4 2021
4
🦁
🐜 Association between circulating bile acid alterations and nonalcoholic steatohepatitis independent of obesity and diabetes mellitus
16 auth. Youngae Jung, B. Koo, S. Jang, Da-In Kim, H. Lee, Dong Hyeon Lee, S. Joo, Y. Jung, Jeong Hwan Park, Taekyeong Yoo, ... Murim Choi, Min Kyung Lee, S. Kang, M. Chang, Won Kim, G. Hwang
4 2021
4
🐜
🐜 Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome.
22 auth. Sangmoon Lee, Chang Hoon Shin, Jawon Lee, Seong Dong Jeong, C. Hong, Jun-Dae Kim, Ah-Ra Kim, Boryeong Pak, S. Son, O. Kokhan, ... Taekyeong Yoo, J. Ko, Y. Sohn, O. Kim, J. Ko, T-J Cho, N. Wright, J. Seong, Suk-Won Jin, H. Kang, Hyeon-ho Kim, Murim Choi
3 2021
3
🐜
🐜 Generation and characterization of a mitotane-resistant adrenocortical cell line
15 auth. E. Seidel, Gudrun Walenda, Clemens Messerschmidt, B. Obermayer, M. Peitzsch, Paal W Wallace, Rohini R. Bahethi, Taekyeong Yoo, Murim Choi, P. Schrade, ... S. Bachmann, G. Liebisch, G. Eisenhofer, D. Beule, U. Scholl
3 2020
3
🐜