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Author/Creator Hernando, Inés

1. Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2‐related disorders. Issue 3 (4th January 2021)

Authors:
Lorca, Rebeca; Pannone, Luca; Cuesta‐Llavona, Elías; Bocchinfuso, Gianfranco; Rodríguez‐Reguero, Julian; Carpentieri, Giovanna; Hernando, Inés; Flex, Elisabetta; Tartaglia, Marco; Coto, Eliecer; Gómez, Juan; Martinelli, Simone
Journal:
Clinical genetics
Issue:
Volume 99:Issue 3(2021)
Page Start:
457
Record Type:
Journal Article
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2. Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options. Issue 8 (1st June 2020)

Authors:
Diñeiro, Marta; Capín, Raquel; Cifuentes, Guadalupe Á.; Fernández‐Vega, Beatriz; Villota, Eva; Otero, Andrea; Santiago, Adrián; Pruneda, Patricia C.; Castillo, David; Viejo‐Díaz, Mónica; Hernando, Inés; Durán, Noelia S.; Álvarez, Rebeca; Lago, Claudia G.; Ordóñez, Gonzalo R.; Fernández‐Vega, Álva...
Journal:
Acta ophthalmologica
Issue:
Volume 98:Issue 8(2020)
Page Start:
e1034
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. Issue 4 (5th October 2019)

Authors:
Bogliolo, Massimo; Pujol, Roser; Aza-Carmona, Miriam; Muñoz-Subirana, Núria; Rodriguez-Santiago, Benjamin; Casado, José Antonio; Rio, Paula; Bauser, Christopher; Reina-Castillón, Judith; Lopez-Sanchez, Marcos; Gonzalez-Quereda, Lidia; Gallano, Pia; Catalá, Albert; Ruiz-Llobet, Ana; Badell, Isabel...
Journal:
Journal of medical genetics
Issue:
Volume 57:Issue 4(2020)
Page Start:
258
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗