First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family

Նմանատիպ նյութեր

• First Independent Replication of the Involvement of LARS2 in Perrault Syndrome by Whole-Exome Sequencing of an Italian Family
  ‌: Soldà, Giulia, և այլն
  Հրապարակվել է: (2015)
• Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss
  ‌: Chiereghin, Chiara, և այլն
  Հրապարակվել է: (2022)
• SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa
  ‌: Chiereghin, Chiara, և այլն
  Հրապարակվել է: (2021)
• Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis
  ‌: Chiereghin, Chiara, և այլն
  Հրապարակվել է: (2017)
• A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing
  ‌: Soldà, Giulia, և այլն
  Հրապարակվել է: (2012)