Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies
- Sanchez-Navarro, I.
- Da Silva, L.R.J.
- Blanco-Kelly, F.
- Zurita, O.
- Sanchez-Bolivar, N.
- Villaverde, C.
- Lopez-Molina, M.I.
- Garcia-Sandoval, B.
- Tahsin-Swafiri, S.
- Minguez, P.
- Riveiro-Alvarez, R.
- Lorda, I.
- Sanchez-Alcudia, R.
- Perez-Carro, R.
- Valverde, D.
- Liu, Y.
- Tian, L.
- Hakonarson, H.
- Avila-Fernandez, A.
- Corton, M.
- Ayuso, C.
Revista:
Scientific Reports
ISSN: 2045-2322
Ano de publicación: 2018
Volume: 8
Número: 1
Tipo: Artigo