1.Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

作　　者：Raquel Perez-Carro ;Marta Corton ;Iker Sánchez-Navarro 等

出　　处：Scientific Reports. 2016 ;6.doi:10.1038/srep19531

出版社：Springer Nature

文章 ID：182351843

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2.Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy

作　　者：Konstantinos Nikopoulos ;Almudena Avila-Fernandez ;Marta Corton 等

出　　处：Scientific Reports. 2015 ;5.doi:10.1038/srep13902

出版社：Springer Nature

文章 ID：113411693

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

作　　者：Iker Sanchez-Navarro ;Luciana R. J. da Silva ;Fiona Blanco-Kelly 等

出　　处：Scientific Reports. 2018 ;8(1):5285.doi:10.1038/s41598-018-23520-1

出版社：Springer Nature

文章 ID：230251227

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4.Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy

作　　者：Konstantinos Nikopoulos ;Almudena Avila-Fernandez ;Marta Corton 等

出　　处：Scientific Reports. 2015 ;5(1).doi:10.1038/srep13902

出版社：Springer Nature

文章 ID：235873978

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5.Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

作　　者：Raquel Perez-Carro ;Marta Corton ;Iker Sánchez-Navarro 等

出　　处：Scientific Reports. 2016 ;6(1).doi:10.1038/srep19531

出版社：Springer Nature

文章 ID：235852860

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6.Erratum: Corrigendum: Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

作　　者：Raquel Perez-Carro ;Marta Corton ;Iker Sánchez-Navarro 等

出　　处：Scientific Reports. 2016 ;6(1).doi:10.1038/srep24843

出版社：Springer Nature

文章 ID：235857675

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7.Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

作　　者：Irene Perea-Romero ;Gema Gordo ;Ionut F. Iancu 等

出　　处：Scientific Reports. 2021 ;11.doi:10.1038/s41598-021-89275-4

出版社：Springer Nature

文章 ID：1032088054

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	Almudena Avila-Fernandez	7篇
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	Raquel Perez-Carro	7篇

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