Risultati della ricerca - Paola Carrera
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The prevalence of autosomal dominant polycystic kidney disease (ADPKD): A meta-analysis of European literature and prevalence evaluation in the Italian province of Modena suggest t... di Andrea Solazzo, Francesca Testa, Silvia Giovanella, Marco Busutti, Luciana Furci, Paola Carrera, Maurizio Ferrari, Giulia Ligabue, Giacomo Mori, Marco Leonelli, Gianni Cappelli, Riccardo Magistroni
Pubblicazione 2018Revisão -
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ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis di Serena Lattante, Maria Grazia Pomponi, Amelia Conte, Giuseppe Marangi, Giulia Bisogni, Agata Katia Patanella, Emiliana Meleo, Christian Lunetta, Nilo Riva, Lorena Mosca, Paola Carrera, Marco Bee, Marcella Zollino, Mario Sabatelli
Pubblicazione 2017Artigo -
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Integrated evaluation of a panel of neurochemical biomarkers to optimize diagnosis and prognosis in amyotrophic lateral sclerosis di Yuri Falzone, Teuta Domi, Alessandra Mandelli, Laura Pozzi, Paride Schito, Tommaso Russo, Alessandra Barbieri, Raffaella Fazio, Maria Antonietta Volontè, Giuseppe Magnani, Ubaldo Del Carro, Paola Carrera, Andrea Malaspina, Federica Agosta, Angelo Quattrini, Roberto Furlan, Massimo Filippi, Nilo Riva
Pubblicazione 2022Artigo -
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<i>TBK1</i>mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation di Laura Pozzi, F. Valenza, Lorena Mosca, Andrea Dal Mas, Teuta Domi, Alessandro Romano, Claudia Tarlarini, Yuri Falzone, Lucio Tremolizzo, Gianni Sorarù, Federica Cerri, Pilar M. Ferraro, Silvia Basaia, Federica Agosta, Raffaella Fazio, M. Comola, Giacomo P. Comi, Maurizio Ferrari, Angelo Quattrini, Christian Lunetta, Silvana Penco, Dario Bonanomi, Paola Carrera, Nilo Riva
Pubblicazione 2017Artigo -
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Recommendations for the implementation of BRCA testing in ovarian cancer patients and their relatives di Stefania Gori, Massimo Barberis, Maria Angela Bella, Fiamma Buttitta, Ettore Capoluongo, Paola Carrera, Nicoletta Colombo, Laura Cortesi, Maurizio Genuardi, Massimo Gion, Valentina Guarneri, Lorena Incorvaia, Nicla La Verde, Domenica Lorusso, Antonio Marchetti, Paolo Marchetti, Nicola Normanno, Barbara Pasini, Matilde Pensabene, Sandro Pignata, Paolo Radice, Enrico Ricevuto, Anna Sapino, Pierosandro Tagliaferri, Pierfrancesco Tassone, Chiara Trevisiol, Mauro Truini, Liliana Varesco, Antonio Russo
Pubblicazione 2019Artigo -
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The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022 di Novella Rapini, Maurizio Delvecchio, Mafalda Mucciolo, Rosario Ruta, Ivana Rabbone, Valentino Cherubini, Stefano Zucchini, Stefano Cianfarani, Elena Prandi, Riccardo Schiaffini, Carla Bizzarri, Barbara Piccini, Giulio Maltoni, Barbara Predieri, Nicola Minuto, Rossella Di Paola, Mara Giordano, Nadia Tinto, V. Grasso, Lucia Russo, Valentina Tiberi, Andrea Scaramuzza, Giulio Frontino, Maria Cristina Maggio, Gianluca Musolino, Elvira Piccinno, Davide Tinti, Paola Carrera, Enza Mozzillo, Marco Cappa, Dario Iafusco, Riccardo Bonfanti, Antonio Novelli, Fabrizio Barbetti, Luciano Beccaria, Francesco Candia, Vittoria Cauvin, Roberta Cardani, Francesca Cardella, Anna Favia, Francesco Gallo, Patrizia Garzia, Paolo Ghirri, Stefania Innaurato, Lorenzo Iughetti, Nicola Laforgia, Donatella Lo Presti, Alberto Marsciani, Franco Meschi, Rossana Panzeca, B Pasquino, Roberta Pesavento, Giulia Pezzino, Petra Reinstadler, Carlo Ripoli, Silvia Savastio, Tiziana Timpanaro, Stefano Tumini, Gianni Vento
Pubblicazione 2024Artigo -
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Implementation of preventive and predictive BRCA testing in patients with breast, ovarian, pancreatic, and prostate cancer: a position paper of Italian Scientific Societies di Antonio Russo, Lorena Incorvaia, Ettore Capoluongo, Pierosandro Tagliaferri, Stefania Gori, Laura Cortesi, Maurizio Genuardi, Daniela Turchetti, Ugo De Giorgi, Massimo Di Maïo, Massimo Barberis, M. Dessena, Marzia Del Re, A. Lapini, Claudio Luchini, B.A. Jereczek-Fossa, Anna Sapino, Saverio Cinieri, Giordano Beretta, Maria Angela Bella, Sergio Bracarda, Nicoletta Colombo, Vincenza Conteduca, Lucia Del Mastro, Antonio Galvano, Valerio Gristina, Valentina Guarneri, Nicla La Verde, Domenica Lorusso, Paolo Marchetti, Nicola Normanno, Laura Ottini, Matilde Pensabene, Sandro Pignata, Giuseppe Procopio, Enrico Ricevuto, Nicola Silvestris, Pierfrancesco Tassone, Marcello Tucci, Vittorio Donato, Silvia Carrara, Salvatore Paiella, Oreste Gentilini, Roberta Gunelli, Fabrizio Nicolis, Fiamma Buttitta, Maurizio Colecchia, Matteo Fassan, Umberto Malapelle, Antonio Marchetti, Caterina Marchiò, Aldo Scarpa, Mauro Truini, Giuseppe Zamboni, M. Gion, Chiara Trevisiol, Alessandro Gronchi, Romano Danesi, V. Di Marco, Paola Carrera, Paola Ghiorzo, Barbara Pasini, Liliana Varesco, Walter Artibani, Giuseppe Ludovico, Ornella Campanella, Simona Vatrano, Enrico Tagliafico
Pubblicazione 2022Revisão -
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TBK1 is associated with ALS and ALS-FTD in Sardinian patients di Giuseppe Borghero, Maura Pugliatti, Francesco Marrosu, Maria Giovanna Marrosu, Maria Rita Murru, Gianluca Floris, Antonino Cannas, Patrizia Occhineri, Tea B. Cau, Daniela Loi, Anna Ticca, S. Traccis, Umberto Manera, Antonio Canosa, Cristina Moglia, Andrea Calvo, Marco Barberis, Maura Brunetti, J. Raphael Gibbs, Alan E. Renton, Edoardo Errichiello, Magdalena Żołędziewska, Antonella Mulas, Yong Qian, Jun Din, Hannah A. Pliner, Bryan J. Traynor, Adriano Chiò, Francesco Logullo, Isabella Laura Simone, Giancarlo Logroscino, Fabrizio Salvi, Ilaria Bartolomei, Margherita Capasso, Claudia Caponnetto, Paola Mandich, Gianluigi Mancardi, Paola Origone, F. L. Conforti, Giuseppe Vita, Sonia Messina, Massimo Russo, Gabriele Mora, Kalliopi Marinou, Riccardo Sideri, Christian Lunetta, Silvana Penco, Lorena Mosca, Giuseppe Lauria, Massimo Corbo, Nilo Riva, Paola Carrera, Paolo Volanti, Lucio Tremolizzo, Carlo Ferrarese, Nicola Fini, Antonio Fasano, Maria Rosaria Monsurrò, Gioacchino Tedeschi, Francesca Trojsi, Giovanni Piccirillo, Viviana Cristillo, Letizia Mazzini, Sandra D’Alfonso, Anna Bersano, Lucia Corrado, Alessandra Bagarotti, Vincenzo La Bella, Rossella Spataro, Tiziana Colletti, Mario Sabatelli, Marcella Zollino, Amelia Conte, Marco Luigetti, Serena Lattante, Giuseppe Marangi, Marialuisa Santarelli, Antonio Petrucci, Fabio Giannini, Stefania Battistini, Claudia Ricci, Michele Benigni, Gabriella Restagno, Federico Casale, Giuseppe Marrali, Giuseppe Fuda, Irene Ossola, Stefania Cammarosano, Antonio Ilardi, Davide Bertuzzo, Raffaella Tanel, Fabrizio Pisano, E Costantino, Carla Pani, Roberta Puddu, Carla Caredda, Valeria Piras, Stefania Tranquilli, Stefania Cuccu, Daniela Corongiu
Pubblicazione 2016Artigo -
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Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis di Sara Bandrés‐Ciga, Alastair Noyce, Gibran Hemani, A Arosio, Marco Barberis, Ilaria Bartolomei, Stefania Battistini, Michele Benigni, Giuseppe Borghero, Maura Brunetti, Andrea Calvo, Stefania Cammarosano, Antonino Cannas, Antonio Canosa, Margherita Capasso, Claudia Caponnetto, Carla Caredda, Paola Carrera, Federico Casale, Sebastiano Cavallaro, Tiziana Colletti, F. L. Conforti, Amelia Conte, Lucia Corrado, E Costantino, Sandra D’Alfonso, Antonio Fasano, Cinzia Femiano, Carlo Ferrarese, Nicola Fini, Gianluca Floris, Giuseppe Fuda, Fabio Giannini, Maurizio Grassano, Antonio Ilardi, Vincenzo La Bella, Serena Lattante, Giancarlo Logroscino, Francesco Logullo, Daniela Loi, Christian Lunetta, Gianluigi Mancardi, Paola Mandich, Jessica Mandrioli, Umberto Manera, Giuseppe Marangi, Kalliopi Marinou, Giuseppe Marrali, Maria Giovanna Marrosu, Letizia Mazzini, Maurizio Melis, Sonia Messina, Cristina Moglia, Maria Rosaria Monsurrò, Gabriele Mora, Luigi Mosca, Patrizia Occhineri, Paola Origone, Carla Pani, Silvana Penco, Antonio Petrucci, Giovanni Piccirillo, Angelo Pirisi, Fabrizio Pisano, Maura Pugliatti, Gabriella Restagno, Claudia Ricci, Maria Rita Murru, Nilo Riva, Mario Sabatelli, Fabrizio Salvi, Marialuisa Santarelli, Riccardo Sideri, Isabella Laura Simone, Rossella Spataro, Raffaella Tanel, Gioacchino Tedeschi, Stefania Tranquilli, Lucio Tremolizzo, Francesca Trojsi, Paolo Volanti, Marcella Zollino, Yevgeniya Abramzon, Sampath Arepalli, Robert Baloh, Robert Bowser, Christopher B. Brady, Alexis Brice, James R. Broach, Roy H. Campbell, William Camu, Ruth Chia, Johnathan Cooper‐Knock, Daniele Cusi, Jinhui Ding, Carsten Drepper, Vivian E. Drory, Travis Dunckley, John D. Eicher, Faraz Faghri
Pubblicazione 2019Artigo -
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X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19 di Takaki Asano, Bertrand Boisson, Fanny Onodi, Daniela Matuozzo, Marcela Moncada‐Vélez, Majistor Raj Luxman Maglorius Renkilaraj, Peng Zhang, Laurent Meertens, Alexandre Bolze, Marie Materna, Sarantis Korniotis, Adrian Gervais, Estelle Talouarn, Benedetta Bigio, Yoann Seeleuthner, Kaya Bilgüvar, Yu Zhang, Anna‐Lena Neehus, Masato Ogishi, Simon J. Pelham, Tom Le Voyer, Jérémie Rosain, Quentin Philippot, Pere Soler‐Palacín, Roger Colobrán, Andrea Martín-Nalda, Jacques G. Rivière, Yacine Tandjaoui-Lambiotte, Khalil Chaïbi, Mohammad Shahrooei, Ilad Alavi Darazam, Nasrin Alipour Olyaei, Davood Mansouri, Nevin Hatipoğlu, Figen Palabıyık, Tayfun Özçelık, Giuseppe Novelli, Antonio Novelli, Giorgio Casari, Alessandro Aiuti, Paola Carrera, Simone Bondesan, Federica Barzaghi, Patrizia Rovere-Querini, Cristina Tresoldi, José Luis Franco, Julian Rojas, Luis Felipe Reyes, Ingrid G. Bustos, Andrés A. Arias, Guillaume Morelle, Christèle Kyheng, Jesús Troya, Laura Planas‐Serra, Agatha Schlüter, Marta Gut, Aurora Pujol, Luís M. Allende, Carlos Rodríguez‐Gallego, Carlos Flores, Óscar Cabrera-Marante, Daniel E. Pleguezuelo, Rebeca Pérez de Diego, Sevgi Keleş, Gökhan Aytekіn, Özge Metin Akcan, Yenan T. Bryceson, Peter Bergman, Petter Brodin, Daniel Smole, Smith Rjh, Anna-Carin Norlin, Tessa M. Campbell, Laura Covill, Lennart Hammarström, Qiang Pan‐Hammarström, Hassan Abolhassani, Shrikant Mane, Nico Marr, Manar Ata, Fatima Al Ali, Taushif Khan, András N. Spaan, Clifton L. Dalgard, Paolo Bonfanti, Andrea Biondi, Sarah Tubiana, Charles Burdet, Robert L. Nussbaum, Amanda Kahn-Kirby, Andrew L. Snow, Jacinta Bustamante, Anne Puel, Stéphanie Boisson‐Dupuis, Shen‐Ying Zhang, Vivien Béziat, Richard P. Lifton, Paul Bastard, Luigi D. Notarangelo, Laurent Abel
Pubblicazione 2021Artigo -
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Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 di Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Jérémy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Peng Zhang, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani, Ahmad Abou Tayoun, Alessandro Aiuti, Ilad Alavi Darazam, Luís M. Allende, Rebeca Alonso‐Arias, Andrés A. Arias, Gökhan Aytekіn, Peter Bergman, Simone Bondesan, Yenan T. Bryceson, Ingrid G. Bustos, Óscar Cabrera-Marante, Sheila Cárcel, Paola Carrera, Giorgio Casari, Khalil Chaïbi, Roger Colobrán, Antônio Condino‐Neto, Laura Covill, Loubna El Zein, Carlos Flores, Peter K. Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hançerli, Lennart Hammarström, Nevin Hatipoğlu, Adem Karbuz, Sevgi Keleş, Christèle Kyheng, Rafael León‐López, José Luis Franco, Davood Mansouri, Javier Martínez‐Picado, Özge Metin Akcan, Isabelle Migeotte, Pierre‐Emmanuel Morange, Guillaume Morelle, Andrea Martín-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Özçelık, Figen Palabıyık, Qiang Pan‐Hammarström, Rebeca Pérez de Diego, Laura Planas‐Serra, Daniel E. Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G. Rivière, Carlos Rodríguez‐Gallego, Julián Rojas, Patrizia Rovere‐Querini, Agatha Schlüter, Mohammad Shahrooei, Ali Sobh, Pere Soler‐Palacín, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesús Troya, Diederik van de Beek, Mayana Zatz, Paweł Zawadzki, Saleh Zaid Al-Muhsen, Hagit Baris Feldman, Manish J. Butte, Stefan N. Constantinescu, Megan A. Cooper, Clifton L. Dalgard, Jacques Fellay, James R. Heath, YL Lau, Richard P. Lifton, Tom Maniatis, Trine H. Mogensen, Horst von Bernuth, Alban Lermine, Michel Vidaud, Anne Boland, Jean‐François Deleuze, Robert L. Nussbaum
Pubblicazione 2022Pré-impressão -
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Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 di Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jérémy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani, Ahmad Abou Tayoun, Alessandro Aiuti, Ilad Alavi Darazam, Luis M. Allende, Rebeca Alonso‐Arias, Andrés A. Arias, Gökhan Aytekіn, Peter Bergman, Simone Bondesan, Yenan T. Bryceson, Ingrid G. Bustos, Óscar Cabrera-Marante, Sheila Cárcel, Paola Carrera, Giorgio Casari, Khalil Chaïbi, Roger Colobrán, Antônio Condino‐Neto, Laura Covill, Ottavia M. Delmonte, Loubna El Zein, Carlos Flores, Peter K. Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hançerli, Lennart Hammarström, Nevin Hatipoğlu, Adem Karbuz, Sevgi Keleş, Christèle Kyheng, Rafael León‐López, José Luis Franco, Davood Mansouri, Javier Martínez‐Picado, Özge Metin Akcan, Isabelle Migeotte, Pierre‐Emmanuel Morange, Guillaume Morelle, Andrea Martín-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Özçelık, Figen Palabıyık, Qiang Pan‐Hammarström, Rebeca Pérez de Diego, Laura Planas‐Serra, Daniel E. Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G. Rivière, Carlos Rodríguez‐Gallego, Julián Rojas, Patrizia Rovere‐Querini, Agatha Schlüter, Mohammad Shahrooei, Ali Sobh, Pere Soler‐Palacín, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesús Troya, Diederik van de Beek, Mayana Zatz, Paweł Zawadzki, Saleh Zaid Al-Muhsen, Mohammed F. Alosaimi, Fahad Alsohime, Hagit Baris Feldman, Manish J. Butte, Stefan N. Constantinescu, Megan A. Cooper, Clifton L. Dalgard, Jacques Fellay, James R. Heath, YL Lau, Richard P. Lifton, Tom Maniatis, Trine H. Mogensen, Horst von Bernuth, Alban Lermine, Michel Vidaud
Pubblicazione 2023Artigo -
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Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 di Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jérémy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani, Ahmad Abou Tayoun, Alessandro Aiuti, Ilad Alavi Darazam, Luís M. Allende, Rebeca Alonso‐Arias, Andrés A. Arias, Gökhan Aytekіn, Peter Bergman, Simone Bondesan, Yenan T. Bryceson, Ingrid G. Bustos, Óscar Cabrera-Marante, Sheila Cárcel, Paola Carrera, Giorgio Casari, Khalil Chaïbi, Roger Colobrán, Antônio Condino‐Neto, Laura Covill, Ottavia M. Delmonte, Loubna El Zein, Carlos Flores, Peter K. Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hançerli, Lennart Hammarström, Nevin Hatipoğlu, Adem Karbuz, Sevgi Keleş, Christèle Kyheng, Rafael León‐López, José Luis Franco, Davood Mansouri, Javier Martínez‐Picado, Özge Metin Akcan, Isabelle Migeotte, Pierre‐Emmanuel Morange, Guillaume Morelle, Andrea Martín-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Özçelık, Figen Palabıyık, Qiang Pan‐Hammarström, Rebeca Pérez de Diego, Laura Planas‐Serra, Daniel E. Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G. Rivière, Carlos Rodríguez‐Gallego, Julián Rojas, Patrizia Rovere‐Querini, Agatha Schlüter, Mohammad Shahrooei, Ali Sobh, Pere Soler‐Palacín, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesús Troya, Diederik van de Beek, Mayana Zatz, Paweł Zawadzki, Saleh Zaid Al-Muhsen, Mohammed F. Alosaimi, Fahad Alsohime, Hagit Baris Feldman, Manish J. Butte, Stefan N. Constantinescu, Megan A. Cooper, Clifton L. Dalgard, Jacques Fellay, James R. Heath, YL Lau, Richard P. Lifton, Tom Maniatis, Trine H. Mogensen, Horst von Bernuth, Alban Lermine, Michel Vidaud
Pubblicazione 2024Errata/Corrigenda -
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Additional file 2 of Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 di Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jérémy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani, Ahmad Abou Tayoun, Alessandro Aiuti, Ilad Alavi Darazam, Luís M. Allende, Rebeca Alonso‐Arias, Andrés A. Arias, Gökhan Aytekіn, Peter Bergman, Simone Bondesan, Yenan T. Bryceson, Ingrid G. Bustos, Óscar Cabrera-Marante, Sheila Cárcel, Paola Carrera, Giorgio Casari, Khalil Chaïbi, Roger Colobrán, Antônio Condino‐Neto, Laura Covill, Ottavia M. Delmonte, Loubna El Zein, Carlos Flores, Peter K. Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hançerli, Lennart Hammarström, Nevin Hatipoğlu, Adem Karbuz, Sevgi Keleş, Christèle Kyheng, Rafael León‐López, José Luis Franco, Davood Mansouri, Javier Martínez‐Picado, Özge Metin Akcan, Isabelle Migeotte, Pierre‐Emmanuel Morange, Guillaume Morelle, Andrea Martín-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Özçelık, Figen Palabıyık, Qiang Pan‐Hammarström, Rebeca Pérez de Diego, Laura Planas‐Serra, Daniel E. Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G. Rivière, Carlos Rodríguez‐Gallego, Julián Rojas, Patrizia Rovere‐Querini, Agatha Schlüter, Mohammad Shahrooei, Ali Sobh, Pere Soler‐Palacín, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesús Troya, Diederik van de Beek, Mayana Zatz, Paweł Zawadzki, Saleh Zaid Al-Muhsen, Mohammed F. Alosaimi, Fahad Alsohime, Hagit Baris Feldman, Manish J. Butte, Stefan N. Constantinescu, Megan A. Cooper, Clifton L. Dalgard, Jacques Fellay, James R. Heath, YL Lau, Richard P. Lifton, Tom Maniatis, Trine H. Mogensen, Horst von Bernuth, Alban Lermine, Michel Vidaud
Pubblicazione 2023Conjunto de Dados -
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Planning the Human Variome Project: The Spain report di Jim Kaput, Richard G.H. Cotton, L Hardman, Michael S. Watson, Aida I. Al Aqeel, Jumana Y. Al‐Aama, Fahd Al‐Mulla, Santos Alonso, Stefan Aretz, Arleen D. Auerbach, Bharati Bapat, Inge Bernstein, Jong Bhak, Stacey Bléoo, Helmut Blöcker, Steven E. Brenner, John Burn, Mariona Bustamante, Rita Calzone, Anne Cambon‐Thomsen, Michele Cargill, Paola Carrera, Lawrence Cavedon, Yoon Shin Cho, Yeun‐Jun Chung, Mireille Claustres, Garry R. Cutting, Raymond Dalgleish, Johan T. den Dunnen, Carlos Bustamante, Steven F. Dobrowolski, Rosário Santos, Rosemary Ekong, Simon B. Flanagan, Paul Flicek, Yoichi Furukawa, Maurizio Genuardi, Ho Ghang, М. В. Голубенко, Marc S. Greenblatt, Ada Hamosh, John M. Hancock, Ross C. Hardison, Terence Harrison, Robert Hoffmann, Rania Horaitis, Heather J. Howard, Carol Isaacson Barash, Neskuts Izagirre, Jongsun Jung, Toshio Kojima, Sandrine Laradi, Yeon-Su Lee, Jong‐Young Lee, Vera Lúcia Gil‐da‐Silva‐Lopes, Finlay Macrae, Donna Maglott, Makia J. Marafie, Steven G. E. Marsh, Yoichi Matsubara, Ludwine M. Messiaen, Gabriela Möslein, Mihai G. Netea, Melissa Norton, Peter J. Oefner, William S. Oetting, James O’Leary, Ana María Oller Ramírez, Mark H. Paalman, Jillian S. Parboosingh, George P. Patrinos, Giuditta Perozzi, Ian Phillips, Sue Povey, S Prasad, Ming Qi, David J. Quin, Raj Ramesar, C. Sue Richards, Judy Savige, D. Scheible, Rodney J. Scott, Daniela Seminara, Elizabeth A. Shephard, Rolf H. Sijmons, Tim D. Smith, María-Jesús Sobrido, Toshihiro Tanaka, Sean V. Tavtigian, Graham R. Taylor, Jon W. Teague, Thoralf Töpel, Mollie Ullman-Culleré, Joji Utsunomiya, Henk J. van Kranen, Mauno Vihinen, Elizabeth Webb, Thomas K. Weber, Meredith Yeager, Young Il Yeom
Pubblicazione 2009Artigo
Strumenti per la ricerca:
Soggetti correlati
Biology
Medicine
Internal medicine
Gene
Genetics
Disease
Amyotrophic lateral sclerosis
Immune system
Computational biology
Immunity
Pathology
Bioinformatics
Coronavirus disease 2019 (COVID-19)
Human genetics
Infectious disease (medical specialty)
Oncology
Physical medicine and rehabilitation
Virology
2019-20 coronavirus outbreak
Biochemistry
Cancer
Cohort
Family medicine
Function (biology)
Genome
Genotype
Gynecology
Immunology
Loss function
Missense mutation