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1 Ergebnisse
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Combining targeted panel-based resequencing and copy-number..:
Sánchez-Navarro, Iker
;
Da Silva, Luciana R.J
;
Blanco-Kelly, Fiona
...
Scientific Reports. , 2018
Link:
http://hdl.handle.net/10486/683251
RT Journal T1
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies
UL https://suche.suub.uni-bremen.de/peid=base-ftuamadrid:oai:repositorio.uam.es:10486_683251&Exemplar=1&LAN=DE A1 Sánchez-Navarro, Iker A1 Da Silva, Luciana R.J A1 Blanco-Kelly, Fiona A1 Zurita, Olga A1 Sánchez-Bolivar, Noelia A1 Villaverde, Cristina A1 López-Molina, María Isabel A1 García-Sandoval, Blanca A1 Tahsin-Swafiri, Saoud A1 Minguez, Pablo A1 Riveiro Álvarez, Rosa A1 Lorda, Isabel A1 Sánchez-Alcudia, Rocío A1 Pérez-Carro, Raquel A1 Valverde, Diana A1 Liu, Yichuan A1 Tian, Lifeng A1 Hakonarson, Hakon A1 Ávila-Fernández, Almudena A1 Corton, Marta A1 Ayuso, Carmen PB Nature Publishing Group YR 2018 K1 Retinopathies K1 Retinal ciliopathies K1 18 genes K1 Ciliary CEP41 gene K1 Phenotypic and genotypic K1 Medicina JF Scientific Reports LK http://hdl.handle.net/10486/683251 DO http://hdl.handle.net/10486/683251 SF ELIB - SuUB Bremen
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