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Mutations in [electronic resource] by
- Tatour, Yasmin
- Sanchez-Navarro, Iker
- Chervinsky, Elana
- Hakonarson, Hakon
- Gawi, Haithum
- Tahsin-Swafiri, Saoud
- Leibu, Rina
- Lopez-Molina, Maria Isabel
- Fernandez-Sanz, Guillermo
- Ayuso, Carmen
- Ben-Yosef, Tamar
Publication details: Journal of medical genetics 09 2017
In:
Journal of medical genetics vol. 54
Availability: No items available.
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Parental Mosaicism in [electronic resource] by
- Tarilonte, María
- Morín, Matías
- Ramos, Patricia
- Galdós, Marta
- Blanco-Kelly, Fiona
- Villaverde, Cristina
- Rey-Zamora, Dolores
- Rebolleda, Gema
- Muñoz-Negrete, Francisco J
- Tahsin-Swafiri, Saoud
- Gener, Blanca
- Moreno-Pelayo, Miguel-Angel
- Ayuso, Carmen
- Villamar, Manuela
- Corton, Marta
Publication details: Frontiers in genetics 2018
In:
Frontiers in genetics vol. 9
Availability: No items available.
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Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases. [electronic resource] by
- Martin-Merida, Inmaculada
- Avila-Fernandez, Almudena
- Del Pozo-Valero, Marta
- Blanco-Kelly, Fiona
- Zurita, Olga
- Perez-Carro, Raquel
- Aguilera-Garcia, Domingo
- Riveiro-Alvarez, Rosa
- Arteche, Ana
- Trujillo-Tiebas, Maria Jose
- Tahsin-Swafiri, Saoud
- Rodriguez-Pinilla, Elvira
- Lorda-Sanchez, Isabel
- Garcia-Sandoval, Blanca
- Corton, Marta
- Ayuso, Carmen
Producer: 20200304
In:
Ophthalmology vol. 126
Availability: No items available.
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Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies. [electronic resource] by
- Sanchez-Navarro, Iker
- R J da Silva, Luciana
- 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
Producer: 20191007
In:
Scientific reports vol. 8
Availability: No items available.
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