Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy

  • Melanie Brugger
  • , Antonella Lauri
  • , Yan Zhen
  • , Laura L. Gramegna
  • , Benedikt Zott
  • , Nikolina Sekulić
  • , Giulia Fasano
  • , Robert Kopajtich
  • , Viviana Cordeddu
  • , Francesca Clementina Radio
  • , Cecilia Mancini
  • , Simone Pizzi
  • , Graziamaria Paradisi
  • , Giancarlo Paradisi
  • , Ginevra Zanni
  • , Giacomo Zanni
  • , Gessica Vasco
  • , Rosalba Carrozzo
  • , Flavia Palombo
  • , Federica Palombo
    • Caterina Tonon, Raffaele Lodi, Chiara La Morgia, Maria Arelin, Cristiane Blechschmidt, Tom Finck, Vigdis Sørensen, Kornelia Kreiser, Gertrud Strobl-Wildemann, Hagit Daum, Rachel Michaelson-Cohen, Lucia Ziccardi, Giuseppe Zampino, Holger Prokisch, Rami Abou Jamra, Claudio Fiorini, Thomas Arzberger, Juliane Winkelmann, Leonardo Caporali, Valerio Carelli, Harald Stenmark, Marco Tartaglia, Matias Wagner

Risultato della ricerca: Contributo in rivista › Articolo

Fingerprint

Entra nei temi di ricerca di 'Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy'. Insieme formano una fingerprint unica.
Ordina per

Biochemistry, Genetics and Molecular Biology

Neuroscience