Хайлтын үр дүнгүүд - Núria Pujol‐Moix

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  1. 1
    Genotype–phenotype correlation in MYH9‐related thrombocytopenia

    Genotype–phenotype correlation in MYH9‐related thrombocytopenia -н Fan Dong, Sufeng Li, Núria Pujol‐Moix, Naomi L.C. Luban, Sang Won Shin, Jae Hong Seo, Arlette Ruiz‐Sàez, Judit Demeter, Scott Langdon, Michael J. Kelley

    Хэвлэсэн 2005
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    Artigo
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  2. 2
    Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and -granule deficiency

    Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and -granule deficiency -н Roberta Bottega, Alessandro Pecci, Erica De Candia, Núria Pujol‐Moix, Paula G. Heller, Patrizia Noris, Daniela De Rocco, Gian Marco Podda, Ana C. Glembotsky, Marco Cattaneo, C. L. Balduini, Anna Savoia

    Хэвлэсэн 2012
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    Artigo
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  3. 3
    Heavy chain myosin 9-related disease (MYH9-RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder

    Heavy chain myosin 9-related disease (MYH9-RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder -н Daniela De Rocco, Emanuele Panza, Valeria Bozzi, Raffaella Scandellari, Giuseppe Loffredo, Andrew Mumford, Paula G. Heller, Patrizia Noris, Marco de Groot, Marisa Giani, P Freddi, Francesca Scognamiglio, Silvia Riondino, Núria Pujol‐Moix, Fabrizio Fabris, Marco Seri, Carlo Balduini, Alessandro Pecci, Anna Savoia

    Хэвлэсэн 2010
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    Artigo
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  4. 4
    Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families

    Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families -н Patrizia Noris, Silverio Perrotta, Marco Seri, Alessandro Pecci, Chiara Gnan, Giuseppe Loffredo, Núria Pujol‐Moix, Marco Zecca, Francesca Scognamiglio, Daniela De Rocco, Francesca Punzo, Federica Melazzini, Saverio Scianguetta, Maddalena Casale, Caterina Marconi, Tommaso Pippucci, Giovanni Amendola, Lucia Dora Notarangelo, Catherine Klersy, Elisa Civaschi, Carlo L. Balduini, Anna Savoia

    Хэвлэсэн 2011
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    Artigo
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  5. 5
    Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2

    Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2 -н Tommaso Pippucci, Anna Savoia, Silverio Perrotta, Núria Pujol‐Moix, Patrizia Noris, Giovanni Castegnaro, Alessandro Pecci, Chiara Gnan, Francesca Punzo, Caterina Marconi, Samuele Gherardi, Giuseppe Loffredo, Daniela De Rocco, Saverio Scianguetta, Serena Barozzi, Pamela Magini, Valeria Bozzi, Luca Dezzani, Mariateresa Di Stazio, Marcella Ferraro, Giovanni Perini, Marco Seri, Carlo L. Balduini

    Хэвлэсэн 2011
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    Artigo
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  6. 6
    Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders

    Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders -н Patrizia Noris, Ginevra Biino, Alessandro Pecci, Elisa Civaschi, Anna Savoia, Marco Seri, Federica Melazzini, Giuseppe Loffredo, Giovanna Russo, Valeria Bozzi, Lucia Dora Notarangelo, Paolo Gresele, Paula G. Heller, Núria Pujol‐Moix, Shinji Kunishima, Marco Cattaneo, James B. Bussel, Erica De Candia, Claudia Cagioni, Ugo Ramenghi, Serena Barozzi, Fabrizio Fabris, Carlo L. Balduini

    Хэвлэсэн 2014
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    Artigo
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  7. 7
    Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history ofMYH9-related disease

    Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history ofMYH9-related disease -н Alessandro Pecci, Emanuele Panza, Núria Pujol‐Moix, Catherine Klersy, Filomena Di Bari, Valeria Bozzi, Paolo Gresele, Stefan Lethagen, Fabrizio Fabris, Carlo Dufour, Antonio Granata, Michael Doubek, Carmine Pecoraro, Pasi A. Koivisto, Paula G. Heller, Achille Iolascon, Patrizia Alvisi, Dirk Schwabe, Erica De Candia, Bianca Rocca, Umberto Russo, Ugo Ramenghi, Patrizia Noris, Marco Seri, Carlo L. Balduini, Anna Savoia

    Хэвлэсэн 2007
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    Artigo
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  8. 8
    Spectrum of the Mutations in Bernard-Soulier Syndrome

    Spectrum of the Mutations in Bernard-Soulier Syndrome -н Anna Savoia, Shinji Kunishima, Daniela De Rocco, Barbara Zieger, Margaret L. Rand, Núria Pujol‐Moix, Ümran Çalışkan, Hüseyin Tokgöz, Alessandro Pecci, Patrizia Noris, Alok Srivastava, Christopher Wård, Marie‐Christine Morel‐Kopp, Marie‐Christine Alessi, Sylvia Bellucci, Philippe Beurrier, Emmanuel de Maistre, Rémi Favier, Nathalie Hézard, Marie-Françoise Hurtaud-Roux, Véronique Latger‐Cannard, Cécile Lavenu‐Bombled, Valérie Proulle, Sandrine Meunier, Claude Négrier, Alan T. Nurden, Hanitra Randrianaivo, Fabrizio Fabris, Helen Platokouki, Nurit Rosenberg, Basma HadjKacem, Paula G. Heller, Mehran Karimi, Carlo L. Balduini, Annalisa Pastore, François Lanza

    Хэвлэсэн 2014
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    Revisão
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  9. 9
    <i>MYH9</i>-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations

    <i>MYH9</i>-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations -н Alessandro Pecci, Catherine Klersy, Paolo Gresele, Kieran J.D. Lee, Daniela De Rocco, Valeria Bozzi, Giovanna Russo, Paula G. Heller, Giuseppe Loffredo, Matthias Ballmaier, Fabrizio Fabris, Eloise Beggiato, Walter H.A. Kahr, Núria Pujol‐Moix, Helen Platokouki, Chris Van Geet, Patrizia Noris, Preethi Yerram, Cédric Hermans, B. Gerber, Marina Economou, Marco de Groot, Barbara Zieger, Erica De Candia, Vincenzo Fraticelli, Rogier Kersseboom, Giorgina Barbara Piccoli, Stefanie Zimmermann, Tiziana Fierro, Ana C. Glembotsky, Fabrizio Vianello, Carlo Zaninetti, Elena Nicchia, Christiane Güthner, Carlo Baronci, Marco Seri, Peter J. Knight, Carlo L. Balduini, Anna Savoia

    Хэвлэсэн 2013
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    Artigo
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  10. 10
    The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

    The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants -н Ana Rio‐Machín, Tom Vulliamy, Nele Hug, Amanda J. Walne, Kiran Tawana, Shirleny Cardoso, Alicia Ellison, Nikolas Pontikos, Jun Wang, Hemanth Tummala, Ahad Al Seraihi, Jenna Alnajar, Findlay Bewicke‐Copley, Hannah Armes, Michael J. Barnett, Adrian Bloor, Csaba Bödör, David Bowen, Pierre Fenaux, Andrew Green, Andrew R. Hallahan, Henrik Hjorth‐Hansen, Upal Hossain, Sally Killick, Sarah Lawson, Mark Layton, Alison Male, Judith Marsh, Priyanka Mehta, Rogier Mous, Josep Nomdedéu, Carolyn Owen, Jiří Pavlů, Elspeth Payne, Rachel Protheroe, Claude Preudhomme, Núria Pujol‐Moix, Aline Renneville, Nigel H. Russell, Anand Saggar, Gabriela Sciuccati, David Taussig, Cynthia L. Toze, Anne Uyttebroeck, Peter Vandenberghe, Brigitte Schlegelberger, Tim Ripperger, Doris Steinemann, John K. Wu, Joanne Mason, Paula Page, Susanna Akiki, Kim Reay, Jamie Cavenagh, Vincent Plagnol, Javier F. Cáceres, Jude Fitzgibbon, Inderjeet Dokal

    Хэвлэсэн 2020
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    Artigo
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  11. 11
    Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia

    Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia -н Patrizia Noris, Nicole Schlegel, Catherine Klersy, Paula G. Heller, Elisa Civaschi, Núria Pujol‐Moix, F Fabris, Rémi Favier, Paolo Gresele, Véronique Latger‐Cannard, Adam Cuker, Paquita Nurden, A. Greinacher, Marco Cattaneo, Erica De Candia, Alessandro Pecci, M.-F. Hurtaud-Roux, Ana C. Glembotsky, Eduardo Muñiz‐Díaz, M. L. Randi, Nathalie Trillot, Loredana Bury, Thomas Lecompte, Caterina Marconi, Anna Savoia, Carlo L. Balduini, Sophie Bayart, Anne Bauters, S. Benabdallah-Guedira, Françoise Boehlen, J.Y. Borg, Roberta Bottega, James B. Bussel, Daniela De Rocco, Emmanuel de Maistre, Michela Faleschini, Emanuela Falcinelli, Silvia Ferrari, Alina Ferster, Tiziana Fierro, D. Fleury, Pierre Fontana, Chloé James, François Lanza, Véronique Le Cam Duchez, Giuseppe Loffredo, Pamela Magini, Dominique Martin–Coignard, F. Ménard, Sandra Mercier, Anna Maria Mezzasoma, P. Minuz, Ilaria Nichele, Luigi D. Notarangelo, Tommaso Pippucci, Gian Marco Podda, Catherine Pouymayou, A. Rigouzzo, Bruno Royer, Piérre Siè, Virginie Siguret, Catherine Trichet, Alessandra Tucci, Béatrice Saposnik, Dino Veneri

    Хэвлэсэн 2014
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    Artigo
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