תוצאות חיפוש - Deborah Mascalzoni
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Informed Consent in the Genomics Era מאת Deborah Mascalzoni, Andrew A. Hicks, Peter P. Pramstaller, Matthias Wjst
יצא לאור 2008Artigo -
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‘You should at least ask’. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research מאת Pauline McCormack, Anna Kole, Sabina Gainotti, Deborah Mascalzoni, Caron Molster, Hanns Lochmüller, Simon Woods
יצא לאור 2016Artigo -
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Meeting Patients’ Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues מאת Sabina Gainotti, Deborah Mascalzoni, Virginie Bros‐Facer, Carlo Petrini, Giovanna Floridia, Marco Roos, Marco Salvatore, Domenica Taruscio
יצא לאור 2018Revisão -
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International Charter of principles for sharing bio-specimens and data מאת Deborah Mascalzoni, Edward S. Dove, Yaffa Rubinstein, Hugh Dawkins, Anna Kole, Pauline McCormack, Simon Woods, Olaf Rieß, Franz Schaefer, Hanns Lochmüller, Bartha Maria Knoppers, Mats Hansson
יצא לאור 2014Artigo -
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Improving the informed consent process in international collaborative rare disease research: effective consent for effective research מאת Sabina Gainotti, Catherine Turner, Simon Woods, Anna Kole, Pauline McCormack, Hanns Lochmüller, Olaf Rieß, Volker Straub, Manuel Posada de la Paz, Domenica Taruscio, Deborah Mascalzoni
יצא לאור 2016Artigo -
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Data in question: A survey of European biobank professionals on ethical, legal and societal challenges of biobank research מאת Melanie Goisauf, Gillian M. Martin, Heidi Beate Bentzen, Isabelle Budin‐Ljøsne, Lars Ursin, Anna Durnová, Liis Leitsalu, Katharine Smith, Sara Casati, Marialuisa Lavitrano, Deborah Mascalzoni, Martin Boeckhout, Michaela Th. Mayrhofer
יצא לאור 2019Artigo -
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From patients to partners: participant-centric initiatives in biomedical research מאת Jane Kaye, Liam Curren, Nicholas Anderson, Kelly Edwards, Stephanie M. Fullerton, Nadja Kanellopoulou, David J. Lund, Daniel G. MacArthur, Deborah Mascalzoni, James Shepherd, Patrick L. Taylor, Sharon F. Terry, Stefan Winter
יצא לאור 2012Revisão -
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Dynamic Consent: a potential solution to some of the challenges of modern biomedical research מאת Isabelle Budin‐Ljøsne, Harriet Teare, Jane Kaye, Stephan Beck, Heidi Beate Bentzen, Luciana Caenazzo, Clive Collett, Flavio D’Abramo, Heike Felzmann, Teresa Finlay, M K Javaid, Erica Jones, Višnja Katić, Amy Simpson, Deborah Mascalzoni
יצא לאור 2017Artigo -
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The challenges of the expanded availability of genomic information: an agenda-setting paper מאת Pascal Borry, Heidi Beate Bentzen, Isabelle Budin‐Ljøsne, Martina C. Cornel, Heidi Howard, Oliver Feeney, Leigh Jackson, Deborah Mascalzoni, Álvaro Mendes, Borut Peterlin, Brígida Riso, Mahsa Shabani, Heather Skirton, Sigrid Sterckx, Danya F. Vears, Matthias Wjst, Heike Felzmann
יצא לאור 2017Artigo -
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The WHO genomics program of work for equitable implementation of human genomics for global health מאת Elena Ambrosino, Ahmad Abou Tayoun, Marc Abramowicz, Bin Alwi Zilfalil, Tiffany Boughtwood, Yosr Hamdi, Tim Hubbard, Yoshihiro Kato, Íscia Lopes‐Cendes, Partha P. Majumder, Deborah Mascalzoni, Rokhaya Ndiaye, Michèle Ramsay, Gabriela M. Repetto, Vorasuk Shotelersuk, Sherry Taylor, John C. Reeder, Anna Laura Ross
יצא לאור 2024Carta -
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The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives מאת Cristian Pattaro, Fabio Marroni, Alice Riegler, Deborah Mascalzoni, Irene Pichler, Cláudia B. Volpato, Umberta Dal Cero, Alessandro De Grandi, Clemens Egger, Agatha Eisendle, Christian Fuchsberger, Martin Gögele, Sara Pedrotti, Gerd K. Pinggera, Стефан Стефанов, Florian D. Vogl, Christian J. Wiedermann, Thomas Meitinger, Peter P. Pramstaller
יצא לאור 2007Artigo -
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The Cooperative Health Research in South Tyrol (CHRIS) study: rationale, objectives, and preliminary results מאת Cristian Pattaro, Martin Gögele, Deborah Mascalzoni, Roberto Melotti, Christine Schwienbacher, Alessandro De Grandi, Luisa Foco, Yuri D’Elia, Barbara Linder, Christian Fuchsberger, Cosetta Minelli, Clemens Egger, Lisa S. Kofink, Stefano Zanigni, Torsten Schäfer, Maurizio Facheris, Sigurdur Smarason, Alessandra Rossini, Andrew A. Hicks, Helmuth Weiss, Peter P. Pramstaller
יצא לאור 2015Artigo -
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Public Preferences for Digital Health Data Sharing: Discrete Choice Experiment Study in 12 European Countries מאת Roberta Biasiotto, Jennifer Viberg Johansson, Melaku Alemu, Virginia Romano, Heidi Beate Bentzen, Jane Kaye, Mirko Ancillotti, Johanna M. C. Blom, Gauthier Chassang, Dara Hallinan, Guðbjörg Andrea Jónsdóttir, Aníbal Monasterio Astobiza, Emmanuelle Rial‐Sebbag, David Rodríguez‐Arias, Nisha Shah, Lea Skovgaard, Ciara Staunton, Katharina Tschigg, Jorien Veldwijk, Deborah Mascalzoni
יצא לאור 2023Artigo -
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Are Requirements to Deposit Data in Research Repositories Compatible With the European Union's General Data Protection Regulation? מאת Deborah Mascalzoni, Heidi Beate Bentzen, Isabelle Budin‐Ljøsne, Lee A. Bygrave, Jessica Bell, Edward S. Dove, Christian Fuchsberger, Kristian Hveem, Michaela Th. Mayrhofer, Viviana Meraviglia, David R. O’Brien, Cristian Pattaro, Peter P. Pramstaller, Vojin Rakić, Alessandra Rossini, Mahsa Shabani, Dan Jerker B. Svantesson, Marta Tomasi, Lars Ursin, Matthias Wjst, Jane Kaye
יצא לאור 2019Revisão -
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Genetic Testing in Parkinson's Disease מאת Gian Pal, Lola Cook, Jeanine Schulze, Jennifer Verbrugge, Roy N. Alcalay, Marcelo Merello, Carolyn M. Sue, Soraya Bardien, Vincenzo Bonifati, Sun Ju Chung, Tatiana Foroud, Emilia Gatto, Anne Hall, Nobutaka Hattori, Tim Lynch, Karen Marder, Deborah Mascalzoni, Ivana Novaković, Avner Thaler, Deborah Raymond, Mehri Salari, Ali Shalash, Oksana Suchowersky, Niccolò E. Mencacci, Tanya Simuni, Rachel Saunders‐Pullman, Christine Klein
יצא לאור 2023Artigo -
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Recommendations for Improving the Quality of Rare Disease Registries מאת Yllka Kodra, Jérôme Weinbach, Manuel Posada de la Paz, Alessio Coi, Sophie Lemonnier, David van Enckevort, Marco Roos, Annika Jacobsen, Ronald Cornet, S Faisal Ahmed, Virginie Bros‐Facer, Veronica Popa, Marieke van Meel, Daniel Renault, Rainald von Gizycki, Michele Santoro, Paul Landais, Paola Torreri, Claudio Carta, Deborah Mascalzoni, Sabina Gainotti, Estrella López‐Martín, Anna Ambrosini, Heimo Müller, Robert I. Reis, Fabrizio Bianchi, Yaffa Rubinstein, Hanns Lochmüller, Domenica Taruscio
יצא לאור 2018Artigo -
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The case for open science: rare diseases מאת Yaffa Rubinstein, Peter N. Robinson, William A. Gahl, Paul Avillach, Gareth Baynam, Helene Cederroth, Rebecca Goodwin, Stephen C. Groft, Mats Hansson, Nomi L. Harris, Vojtech Huser, Deborah Mascalzoni, Julie A. McMurry, Matthew Might, Christoffer Nellåker, Barend Mons, Dina N. Paltoo, Jonathan Pevsner, Manuel Posada de la Paz, Alison P Rockett-Frase, Marco Roos, Tamar B. Rubinstein, Domenica Taruscio, David van Enckevort, Melissa Haendel
יצא לאור 2020Revisão
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