Хайлтын үр дүнгүүд - Beatriz Paumard‐Hernández

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  1. 1
    Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumour

    Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumour -н Oriol Calvete, José Reyes, S. Zúñiga, Beatriz Paumard‐Hernández, María Victoria Fernández, Luís Bujanda, María Rodríguez‐Pinilla, José Palacios, Damián Heine‐Suñer, Siddharth Banka, William G. Newman, Marta Cañamero, D. Mark Pritchard, Javier Benı́tez

    Хэвлэсэн 2015
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    Artigo
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  2. 2
    Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants

    Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants -н Beatriz Paumard‐Hernández, Julia Berges‐Soria, Eva Barroso, Carlos I Rivera-Pedroza, Virginia Pérez‐Carrizosa, Sara Benito‐Sanz, Eva López-Messa, Fernando Santos, I. García‐Recuero, A. Romance, Juliana María Ballesta-Martínez, Vanesa López‐González, Ángel Campos‐Barros, Jaime Cruz‐Rojo, Encarna Guillén‐Navarro, Jaime Sánchez del Pozo, Pablo Lapunzina, Sixto García‐Miñaúr, Karen E. Heath

    Хэвлэсэн 2014
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    Artigo
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  3. 3
    A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li–Fraumeni-like families

    A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li–Fraumeni-like families -н Oriol Calvete, Paula Martínez, Pablo García‐Pavía, Carlos Benitéz‐Buelga, Beatriz Paumard‐Hernández, María Victoria Fernández, Fernándo Domínguez, Clara Salas, Nuria Romero-Laorden, Jesús García-Donás, Jaime Carrillo, Rosario Perona, Juan Carlos Triviño, Raquel Andrés, Juana María Cano, Bárbara Rivera, Luis Alonso‐Pulpón, Fernando Setién, Manel Esteller, Sandra Rodríguez, Gaëlle Bougeard, T Frebourg, Miguel Urioste, Marı́a A. Blasco, Javier Benı́tez

    Хэвлэсэн 2015
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    Artigo
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