Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies

  1. Sanchez-Navarro, I.
  2. Da Silva, L.R.J.
  3. Blanco-Kelly, F.
  4. Zurita, O.
  5. Sanchez-Bolivar, N.
  6. Villaverde, C.
  7. Lopez-Molina, M.I.
  8. Garcia-Sandoval, B.
  9. Tahsin-Swafiri, S.
  10. Minguez, P.
  11. Riveiro-Alvarez, R.
  12. Lorda, I.
  13. Sanchez-Alcudia, R.
  14. Perez-Carro, R.
  15. Valverde, D.
  16. Liu, Y.
  17. Tian, L.
  18. Hakonarson, H.
  19. Avila-Fernandez, A.
  20. Corton, M.
  21. Ayuso, C.
Revista:
Scientific Reports

ISSN: 2045-2322

Ano de publicación: 2018

Volume: 8

Número: 1

Tipo: Artigo

DOI: 10.1038/S41598-018-23520-1 GOOGLE SCHOLAR lock_openAcceso aberto editor
Fonte de datos: Scopus