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Publications

Found 2 results
Author Title [ Type(Asc)] Year
Filters: Author is Nikoncuk, Anita  [Clear All Filters]
Journal Article
Perenthaler E, Nikoncuk A, Yousefi S, Berdowski WM, Alsagob M, Capo I, van der Linde HC, van den Berg P, Jacobs EH, Putar D et al..  2019.  Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.. Acta Neuropathol.
Salsench EMedico, Maroofian R, Deng R, Lanko K, Nikoncuk A, Pérez B, Sánchez-Lijarcio O, Ibáñez-Mico S, Wojcik A, Vargas M et al..  2021.  Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.. Brain.
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Belfer Research Building
413 E 69th St
New York, NY 10021
Weill Cornell Medicine
1300 York Avenue
New York, NY 10065
Gertrude and Louis Feil Family Research Building
407 E 61st St
New York, NY 10065
Phone: (646) 962-8277
Fax: (646) 962-0535
  • About BMRI
    • Our Mission
    • Research Programs
    • Training
    • Facilities
    • Campus
    • Ways to Give
    • Administration
  • Faculty & Research
    • Faculty, Primary Appointments
    • Faculty, Secondary Appointments
    • Appel Institute
    • Center for Neurogenetics
    • Clinical & Translational Neuroscience Unit
      • CTNU Director
      • CTNU Research Opportunities
    • Affiliate Institutions
    • New Grants
    • Publications
  • News
    • New Grants
  • Events
  • Education
    • Neuroscience Graduate Program
    • Neuroscience Retreat
    • Leon Levy Fellowship
    • Research Residency
    • Brain Awareness
    • Medical School AOC
    • First Year Students
  • Core Facilities
    • Neuroanatomy EM Core
    • Neurogenetic Repository
    • BMRI Cores
  • Diversity and Inclusion
    • BMRI Diversity and Inclusion
    • Emerging Leaders in Neuroscience
    • BMRI Summer Scholars Program
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