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A novel mutation in ADAMTS13 of a child with Upshaw-Schulman Syndrome. [electronic resource] by
- Pérez-Rodríguez, Almudena
- Batlle-López, Ana
- Blanco, Rosa
- Varela, Ignacio
- León, Javier
- Delgado, M Dolores
- Lourés, Esther
- Rodríguez-Trillo, Angela
- García-Rivero, Aránzazu
- Costa-Pinto, Joana
- Batlle, Javier
- López-Fernández, María Fernanda
Producer: 20150728
In:
Thrombosis and haemostasis vol. 112
Availability: No items available.
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8.
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Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients. [electronic resource] by
- Borràs, Nina
- Batlle, Javier
- Pérez-Rodríguez, Almudena
- López-Fernández, María Fernanda
- Rodríguez-Trillo, Ángela
- Lourés, Esther
- Cid, Ana Rosa
- Bonanad, Santiago
- Cabrera, Noelia
- Moret, Andrés
- Parra, Rafael
- Mingot-Castellano, María Eva
- Balda, Ignacia
- Altisent, Carme
- Pérez-Montes, Rocío
- Fisac, Rosa María
- Iruín, Gemma
- Herrero, Sonia
- Soto, Inmaculada
- de Rueda, Beatriz
- Jiménez-Yuste, Víctor
- Alonso, Nieves
- Vilariño, Dolores
- Arija, Olga
- Campos, Rosa
- Paloma, María José
- Bermejo, Nuria
- Berrueco, Rubén
- Mateo, José
- Arribalzaga, Karmele
- Marco, Pascual
- Palomo, Ángeles
- Sarmiento, Lizheidy
- Iñigo, Belén
- Nieto, María Del Mar
- Vidal, Rosa
- Martínez, María Paz
- Aguinaco, Reyes
- César, Jesús María
- Ferreiro, María
- García-Frade, Javier
- Rodríguez-Huerta, Ana María
- Cuesta, Jorge
- Rodríguez-González, Ramón
- García-Candel, Faustino
- Cornudella, Rosa
- Aguilar, Carlos
- Vidal, Francisco
- Corrales, Irene
Producer: 20180806
In:
Haematologica vol. 102
Availability: No items available.
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9.
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Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): Proposal for a new diagnostic paradigm. [electronic resource] by
- Batlle, Javier
- Pérez-Rodríguez, Almudena
- Corrales, Irene
- López-Fernández, Maria Fernanda
- Rodríguez-Trillo, Ángela
- Lourés, Esther
- Cid, Ana Rosa
- Bonanad, Santiago
- Cabrera, Noelia
- Moret, Andrés
- Parra, Rafael
- Mingot-Castellano, María Eva
- Balda, Ignacia
- Altisent, Carmen
- Pérez-Montes, Rocío
- Fisac, Rosa María
- Iruín, Gemma
- Herrero, Sonia
- Soto, Inmaculada
- de Rueda, Beatriz
- Jiménez-Yuste, Victor
- Alonso, Nieves
- Vilariño, Dolores
- Arija, Olga
- Campos, Rosa
- Paloma, María José
- Bermejo, Nuria
- Toll, Teresa
- Mateo, José
- Arribalzaga, Karmele
- Marco, Pascual
- Palomo, Ángeles
- Sarmiento, Lizheidy
- Iñigo, Belén
- Nieto, María del Mar
- Vidal, Rosa
- Martínez, María Paz
- Aguinaco, Reyes
- César, Jesús María
- Ferreiro, María
- García-Frade, Javier
- Rodríguez-Huerta, Ana María
- Cuesta, Jorge
- Rodríguez-González, Ramón
- García-Candel, Faustino
- Cornudella, Rosa
- Aguilar, Carlos
- Borràs, Nina
- Vidal, Francisco
Producer: 20160926
In:
Thrombosis and haemostasis vol. 115
Availability: No items available.
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10.
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Unraveling the Influence of Common von Willebrand factor variants on von Willebrand Disease Phenotype: An Exploratory Study on the Molecular and Clinical Profile of von Willebrand Disease in Spain Cohort. [electronic resource] by
- Borràs, Nina
- Garcia-Martínez, Iris
- Batlle, Javier
- Pérez-Rodríguez, Almudena
- Parra, Rafael
- Altisent, Carme
- López-Fernández, María Fernanda
- Costa Pinto, Joana
- Batlle-López, Fernando
- Cid, Ana Rosa
- Bonanad, Santiago
- Cabrera, Noelia
- Moret, Andrés
- Mingot-Castellano, María Eva
- Navarro, Nira
- Pérez-Montes, Rocío
- Marcellini, Shally
- Moreto, Ana
- Herrero, Sonia
- Soto, Inmaculada
- Fernández-Mosteirín, Núria
- Jiménez-Yuste, Víctor
- Alonso, Nieves
- de Andrés-Jacob, Aurora
- Fontanes, Emilia
- Campos, Rosa
- Paloma, María José
- Bermejo, Nuria
- Berrueco, Rubén
- Mateo, José
- Arribalzaga, Karmele
- Marco, Pascual
- Palomo, Ángeles
- Castro Quismondo, Nerea
- Iñigo, Belén
- Del Mar Nieto, María
- Vidal, Rosa
- Martínez, María Paz
- Aguinaco, Reyes
- Tenorio, Maria
- Ferreiro, María
- García-Frade, Javier
- Rodríguez-Huerta, Ana María
- Cuesta, Jorge
- Rodríguez-González, Ramón
- García-Candel, Faustino
- Dobón, Manuela
- Aguilar, Carlos
- Corrales, Irene
- Vidal, Francisco
Producer: 20201223
In:
Thrombosis and haemostasis vol. 120
Availability: No items available.
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11.
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Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project. [electronic resource] by
- Pérez-Rodríguez, Almudena
- Batlle, Javier
- Corrales, Irene
- Borràs, Nina
- Rodríguez-Trillo, Ángela
- Lourés, Esther
- Cid, Ana Rosa
- Bonanad, Santiago
- Cabrera, Noelia
- Moret, Andrés
- Parra, Rafael
- Mingot-Castellano, María Eva
- Navarro, Nira
- Altisent, Carmen
- Pérez-Montes, Rocío
- Marcellini, Shally
- Moreto, Ana
- Herrero, Sonia
- Soto, Inmaculada
- Fernández Mosteirín, Nuria
- Jiménez-Yuste, Víctor
- Alonso, Nieves
- de Andrés Jacob, Aurora
- Fontanes, Emilia
- Campos, Rosa
- Paloma, María José
- Bermejo, Nuria
- Berrueco, Rubén
- Mateo, José
- Arribalzaga, Karmele
- Marco, Pascual
- Palomo, Ángeles
- Castro Quismondo, Nerea
- Iñigo, Belén
- Nieto, María Del Mar
- Vidal, Rosa
- Martínez, María Paz
- Aguinaco, Reyes
- Tenorio, Maria
- Ferreiro, María
- García-Frade, Javier
- Rodríguez-Huerta, Ana María
- Cuesta, Jorge
- Rodríguez-González, Ramón
- García-Candel, Faustino
- Dobón, Manuela
- Aguilar, Carlos
- Batlle, Fernando
- Vidal, Francisco
- López-Fernández, María Fernanda
Producer: 20181211
In:
PloS one vol. 13
Availability: No items available.
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12.
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Unraveling the effect of silent, intronic and missense mutations on [electronic resource] by
- Borràs, Nina
- Orriols, Gerard
- Batlle, Javier
- Pérez-Rodríguez, Almudena
- Fidalgo, Teresa
- Martinho, Patricia
- López-Fernández, María Fernanda
- Rodríguez-Trillo, Ángela
- Lourés, Esther
- Parra, Rafael
- Altisent, Carme
- Cid, Ana Rosa
- Bonanad, Santiago
- Cabrera, Noelia
- Moret, Andrés
- Mingot-Castellano, María Eva
- Navarro, Nira
- Pérez-Montes, Rocío
- Marcellin, Sally
- Moreto, Ana
- Herrero, Sonia
- Soto, Inmaculada
- Fernández-Mosteirín, Núria
- Jiménez-Yuste, Víctor
- Alonso, Nieves
- de Andrés-Jacob, Aurora
- Fontanes, Emilia
- Campos, Rosa
- Paloma, María José
- Bermejo, Nuria
- Berrueco, Ruben
- Mateo, José
- Arribalzaga, Karmele
- Marco, Pascual
- Palomo, Ángeles
- Quismondo, Nerea Castro
- Iñigo, Belén
- Nieto, María Del Mar
- Vidal, Rosa
- Martínez, María Paz
- Aguinaco, Reyes
- Tenorio, Jesús María
- Ferreiro, María
- García-Frade, Javier
- Rodríguez-Huerta, Ana María
- Cuesta, Jorge
- Rodríguez-González, Ramón
- García-Candel, Faustino
- Dobón, Manuela
- Aguilar, Carlos
- Vidal, Francisco
- Corrales, Irene
Producer: 20200511
In:
Haematologica vol. 104
Availability: No items available.
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