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A brief guide to analyzing expression quantitative trait loci

Article
A brief guide to analyzing expression quantitative trait loci
  • 2024-11
  • Ko, Byung Su. (2024-11). A brief guide to analyzing expression quantitative trait loci. Molecules and Cells, 47(11). doi: 10.1016/j.mocell.2024.100139
  • Elsevier
  • View : 573
  • Download : 44

Biallelic USP14 variants cause a syndromic neurodevelopmental disorder

Article
Biallelic USP14 variants cause a syndromic neurodevelopmental disorder
  • Ebstein, Frédéric ; 
  • Latypova, Xenia ; 
  • Sharon Hung, Ka Ying ; 
  • Prado, Miguel A. ; 
  • Lee, Byung-Hoon ; 
  • Möller, Sophie ; 
  • Wendlandt, Martin ; 
  • Zieba, Barbara A. ; 
  • Florenceau, Laëtitia ; 
  • Vignard, Virginie ; 
    • et al
  • 2024-06
  • Ebstein, Frédéric. (2024-06). Biallelic USP14 variants cause a syndromic neurodevelopmental disorder. Genetics in Medicine, 26(6). doi: 10.1016/j.gim.2024.101120
  • Elsevier
  • View : 610
  • Download : 140
Article
Jazf1 acts as a regulator of insulin-producing β-cell differentiation in induced pluripotent stem cells and glucose homeostasis in mice
  • Park, Si Jun ; 
  • Kwon, Wookbong ; 
  • Park, Song ; 
  • Jeong, Jain ; 
  • Kim, Dongjun ; 
  • Jang, Soyoung ; 
  • Kim, Si-Yong ; 
  • Sung, Yonghun ; 
  • Kim, Myoung Ok ; 
  • Choi, Seong-Kyoon ; 
    • et al
  • 2021-07
  • Park, Si Jun. (2021-07). Jazf1 acts as a regulator of insulin-producing β-cell differentiation in induced pluripotent stem cells and glucose homeostasis in mice. FEBS Journal, 288(14), 4412–4427. doi: 10.1111/febs.15751
  • Blackwell Publishing Inc.
  • View : 752
  • Download : 0
Article
NMR-based structural characterization of transthyretin in its aggregation-prone state
  • 2020-09
  • Kim, Bokyung. (2020-09). NMR-based structural characterization of transthyretin in its aggregation-prone state. Journal of the Korean Magnetic Resonance Society, 24(3), 91–95. doi: 10.6564/JKMRS.2020.24.3.091
  • 한국자기공명학회
  • View : 779
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Rare Synaptogenesis-Impairing Mutations in SLITRK5 Are Associated with Obsessive Compulsive Disorder

Article
Rare Synaptogenesis-Impairing Mutations in SLITRK5 Are Associated with Obsessive Compulsive Disorder
  • Song, Minseok ; 
  • Mathews, Carol A. ; 
  • Stewart, S. Evelyn ; 
  • Shmelkov, Sergey V. ; 
  • Mezey, Jason G. ; 
  • Rodriguez-Flores, Juan L. ; 
  • Rasmussen, Steven A. ; 
  • Britton, Jennifer C. ; 
  • Oh, Yong-Seok ; 
  • Walkup, John T. ; 
    • et al
  • 2017-01
  • Song, Minseok. (2017-01). Rare Synaptogenesis-Impairing Mutations in SLITRK5 Are Associated with Obsessive Compulsive Disorder. PLoS ONE, 12(1). doi: 10.1371/journal.pone.0169994
  • Public Library of Science
  • View : 1040
  • Download : 158
Article
Six Germline Genetic Variations Impair the Translesion Synthesis Activity of Human DNA Polymerase kappa
  • Kim, Jae-Kwon ; 
  • Yeom, Mina ; 
  • Hong, Jin-Kyung ; 
  • Song, Insil ; 
  • Lee, Young-Sam ; 
  • Guengerich, F. Peter ; 
  • Choi, Jeong-Yun
  • 2016-10
  • Chemical Research in Toxicology, v.29, no.10, pp.1741 - 1754
  • American Chemical Society
  • View : 966
  • Download : 0
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