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

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 2045-2322

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies ; volume:8 ; number:1 ; day:27 ; month:3 ; year:2018 ; pages:1-11 ; date:12.2018
Scientific reports ; 8, Heft 1 (27.3.2018), 1-11, 12.2018

Creator: Sanchez-Navarro, Iker

Contributor: da Silva, Luciana R. J.
Blanco-Kelly, Fiona
Zurita, Olga
Sanchez-Bolivar, Noelia
Villaverde, Cristina
Lopez-Molina, Maria Isabel
Garcia-Sandoval, Blanca
Tahsin-Swafiri, Saoud
Minguez, Pablo
Riveiro-Alvarez, Rosa
Lorda, Isabel
Sanchez-Alcudia, Rocío
Perez-Carro, Raquel
Valverde, Diana
Liu, Yichuan
Tian, Lifeng
Hakonarson, Hakon
Avila-Fernandez, Almudena
Corton, Marta
Ayuso, Carmen
SpringerLink (Online service)

DOI: 10.1038/s41598-018-23520-1

URN: urn:nbn:de:101:1-2018053000030571805601

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:38 AM CEST

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Associated

Sanchez-Navarro, Iker
da Silva, Luciana R. J.
Blanco-Kelly, Fiona
Zurita, Olga
Sanchez-Bolivar, Noelia
Villaverde, Cristina
Lopez-Molina, Maria Isabel
Garcia-Sandoval, Blanca
Tahsin-Swafiri, Saoud
Minguez, Pablo
Riveiro-Alvarez, Rosa
Lorda, Isabel
Sanchez-Alcudia, Rocío
Perez-Carro, Raquel
Valverde, Diana
Liu, Yichuan
Tian, Lifeng
Hakonarson, Hakon
Avila-Fernandez, Almudena
Corton, Marta
Ayuso, Carmen
SpringerLink (Online service)

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

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Other Objects (12)

Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease

Copy number variants are a common cause of non-syndromic hearing loss

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A Hidden Markov Model for Copy Number Variant prediction from whole genome resequencing data

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Syndromic ichthyoses

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