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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 : 575
  • Download : 125
Article
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice
  • Chehadeh, Salima El ; 
  • Han, Kyung Ah ; 
  • Kim, Dongwook ; 
  • Jang, Gyubin ; 
  • Bakhtiari, Somayeh ; 
  • Lim, Dongseok ; 
  • Kim, Hee Young ; 
  • Kim, Jinhu ; 
  • Kim, Hyeonho ; 
  • Wynn, Julia ; 
    • et al
  • 2022-07
  • Chehadeh, Salima El. (2022-07). SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice. Nature Communications, 13(1). doi: 10.1038/s41467-022-31566-z
  • Nature Publishing Group
  • View : 757
  • Download : 0
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