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المؤلفون: Michele Marongiu, Gonzalo Pérez-Mejías, Valeria Orrù, Maristella Steri, Carlo Sidore, Antonio Díaz-Quintana, Antonella Mulas, Fabio Busonero, Andrea Maschio, Klaudia Walter, Manuel Tardaguila, Parsa Akbari, Nicole Soranzo, Edoardo Fiorillo, Myriam Gorospe, David Schlessinger, Irene Díaz-Moreno, Francesco Cucca, Magdalena Zoledziewska
المصدر: Human Molecular Genetics.
مصطلحات موضوعية: Genetics, General Medicine, Molecular Biology, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88fc6d6cdbaf26396a20404df733f5c3
https://doi.org/10.1093/hmg/ddac238 -
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المؤلفون: Fabio Busonero, Marco Masala, Gabriella Sole, Serena Sanna, Valeria Orrù, Cristian Antonio Caria, Michele Marongiu, Magdalena Zoledziewska, Isadora Asunis, Carlo Sidore, Paola Forabosco, Mauro Pala, Gonçalo R. Abecasis, Edoardo Fiorillo, Maristella Pitzalis, Sandra Lai, Francesca Deidda, Antonella Mulas, Matteo Floris, Maristella Steri, Andrea Maschio, Susanna Barella, David Schlessinger, Stefania Olla, Francesco Cucca
المساهمون: Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI)
المصدر: British Journal of Haematology, e124-e128. Wiley
ISSUE=5;STARTPAGE=e124;ENDPAGE=e128;ISSN=0007-1048;TITLE=British Journal of Haematology
Br J Haematolمصطلحات موضوعية: Male, Protein subunit, Hematology, Biology, medicine.disease, Genetic analysis, Molecular biology, Thrombocytopenia, Bernard–Soulier syndrome, Founder Effect, Article, Glycoprotein Ib, Italy, Platelet Glycoprotein GPIb-IX Complex, Mutation, medicine, biology.protein, Humans, Platelet, Female, Functional studies, Beta (finance), Founder mutation
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3
المؤلفون: Jamie Inshaw, Fabio Busonero, Eleonora Porcu, Maristella Pitzalis, Eleonora Cocco, Margherita Chessa, Helen M. Colhoun, Annalisa Loizedda, Marco Masala, Gonçalo R. Abecasis, Maria Giovanna Marrosu, Lidia Leoni, Carlo Sidore, Mario Lovicu, Annapaola Frongia, David Schlessinger, Sandra Lai, Nicolò Curreli, Andrea Maschio, Lenuta Balaci, Liana Ap Ferreli, Fausto Pier'Angelo Poddie, Francesca Virdis, Suna Onengut-Gumuscu, John A. Todd, Michele Marongiu, Valeria Orrù, Maria Rossella Ricciardi, Magdalena Zoledziewska, Antonello Pani, Mariano Dei, Stephen S. Rich, Francesca Deidda, Jessica Frau, Mauro Pala, Nazario Olla, Paola Ferrigno, Edoardo Fiorillo, Gabriella Sole, Alessandro P Delitala, Valentina Serra, Francesco Loi, Stuart J. McGurnaghan, Maristella Steri, Maria Grazia Pilia, Antonella Mulas, Matteo Floris, Francesco Cucca, Luisa Mereu, Catherine C. Robertson
المصدر: Mult Scler
مصطلحات موضوعية: 0301 basic medicine, Mutation, Hemophagocytic lymphohistiocytosis, biology, Inflammation, medicine.disease_cause, medicine.disease, Article, 3. Good health, Autoimmunity, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Immune system, Neurology, Perforin, Immunology, biology.protein, medicine, Neurology (clinical), Allele, medicine.symptom, Cytokine storm, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::415d04bc08b8dfe6dc575e1015b48465
https://doi.org/10.1177/1352458520963937 -
4دورية أكاديمية
المؤلفون: Jun Ding, Carlo Sidore, Thomas J Butler, Mary Kate Wing, Yong Qian, Osorio Meirelles, Fabio Busonero, Lam C Tsoi, Andrea Maschio, Andrea Angius, Hyun Min Kang, Ramaiah Nagaraja, Francesco Cucca, Gonçalo R Abecasis, David Schlessinger
المصدر: PLoS Genetics, Vol 11, Iss 9, p e1005549 (2015)
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Jun Ding, Carlo Sidore, Thomas J Butler, Mary Kate Wing, Yong Qian, Osorio Meirelles, Fabio Busonero, Lam C Tsoi, Andrea Maschio, Andrea Angius, Hyun Min Kang, Ramaiah Nagaraja, Francesco Cucca, Gonçalo R Abecasis, David Schlessinger
المصدر: PLoS Genetics, Vol 11, Iss 7, p e1005306 (2015)
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Martin Sikora, Meredith L Carpenter, Andres Moreno-Estrada, Brenna M Henn, Peter A Underhill, Federico Sánchez-Quinto, Ilenia Zara, Maristella Pitzalis, Carlo Sidore, Fabio Busonero, Andrea Maschio, Andrea Angius, Chris Jones, Javier Mendoza-Revilla, Georgi Nekhrizov, Diana Dimitrova, Nikola Theodossiev, Timothy T Harkins, Andreas Keller, Frank Maixner, Albert Zink, Goncalo Abecasis, Serena Sanna, Francesco Cucca, Carlos D Bustamante
المصدر: PLoS Genetics, Vol 10, Iss 5, p e1004353 (2014)
وصف الملف: electronic resource
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7
المؤلفون: Carlo Sidore, Gonçalo R. Abecasis, Sarah A. Gagliano, Sebanti Sengupta, Andrea Maschio, David Schlessinger, Francesco Cucca
المصدر: Genetic Epidemiology. 43:112-117
مصطلحات موضوعية: Genetics, 0303 health sciences, Epidemiology, 030305 genetics & heredity, Complex disease, food and beverages, Locus (genetics), Single-nucleotide polymorphism, Genome-wide association study, Biology, 03 medical and health sciences, Monocyte count, Indel, Genetics (clinical), 030304 developmental biology
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8دورية أكاديمية
المؤلفون: Joshua C Randall, Thomas W Winkler, Zoltán Kutalik, Sonja I Berndt, Anne U Jackson, Keri L Monda, Tuomas O Kilpeläinen, Tõnu Esko, Reedik Mägi, Shengxu Li, Tsegaselassie Workalemahu, Mary F Feitosa, Damien C Croteau-Chonka, Felix R Day, Tove Fall, Teresa Ferreira, Stefan Gustafsson, Adam E Locke, Iain Mathieson, Andre Scherag, Sailaja Vedantam, Andrew R Wood, Liming Liang, Valgerdur Steinthorsdottir, Gudmar Thorleifsson, Emmanouil T Dermitzakis, Antigone S Dimas, Fredrik Karpe, Josine L Min, George Nicholson, Deborah J Clegg, Thomas Person, Jon P Krohn, Sabrina Bauer, Christa Buechler, Kristina Eisinger, DIAGRAM Consortium, Amélie Bonnefond, Philippe Froguel, MAGIC Investigators, Jouke-Jan Hottenga, Inga Prokopenko, Lindsay L Waite, Tamara B Harris, Albert Vernon Smith, Alan R Shuldiner, Wendy L McArdle, Mark J Caulfield, Patricia B Munroe, Henrik Grönberg, Yii-Der Ida Chen, Guo Li, Jacques S Beckmann, Toby Johnson, Unnur Thorsteinsdottir, Maris Teder-Laving, Kay-Tee Khaw, Nicholas J Wareham, Jing Hua Zhao, Najaf Amin, Ben A Oostra, Aldi T Kraja, Michael A Province, L Adrienne Cupples, Nancy L Heard-Costa, Jaakko Kaprio, Samuli Ripatti, Ida Surakka, Francis S Collins, Jouko Saramies, Jaakko Tuomilehto, Antti Jula, Veikko Salomaa, Jeanette Erdmann, Christian Hengstenberg, Christina Loley, Heribert Schunkert, Claudia Lamina, H Erich Wichmann, Eva Albrecht, Christian Gieger, Andrew A Hicks, Asa Johansson, Peter P Pramstaller, Sekar Kathiresan, Elizabeth K Speliotes, Brenda Penninx, Anna-Liisa Hartikainen, Marjo-Riitta Jarvelin, Ulf Gyllensten, Dorret I Boomsma, Harry Campbell, James F Wilson, Stephen J Chanock, Martin Farrall, Anuj Goel, Carolina Medina-Gomez, Fernando Rivadeneira, Karol Estrada, André G Uitterlinden, Albert Hofman, M Carola Zillikens, Martin den Heijer, Lambertus A Kiemeney, Andrea Maschio, Per Hall, Jonathan Tyrer, Alexander Teumer, Henry Völzke, Peter Kovacs, Anke Tönjes, Massimo Mangino, Tim D Spector, Caroline Hayward, Igor Rudan, Alistair S Hall, Nilesh J Samani, Antony Paul Attwood, Jennifer G Sambrook, Joseph Hung, Lyle J Palmer, Marja-Liisa Lokki, Juha Sinisalo, Gabrielle Boucher, Heikki Huikuri, Mattias Lorentzon, Claes Ohlsson, Niina Eklund, Johan G Eriksson, Cristina Barlassina, Carlo Rivolta, Ilja M Nolte, Harold Snieder, Melanie M Van der Klauw, Jana V Van Vliet-Ostaptchouk, Pablo V Gejman, Jianxin Shi, Kevin B Jacobs, Zhaoming Wang, Stephan J L Bakker, Irene Mateo Leach, Gerjan Navis, Pim van der Harst, Nicholas G Martin, Sarah E Medland, Grant W Montgomery, Jian Yang, Daniel I Chasman, Paul M Ridker, Lynda M Rose, Terho Lehtimäki, Olli Raitakari, Devin Absher, Carlos Iribarren, Hanneke Basart, Kees G Hovingh, Elina Hyppönen, Chris Power, Denise Anderson, John P Beilby, Jennie Hui, Jennifer Jolley, Hendrik Sager, Stefan R Bornstein, Peter E H Schwarz, Kati Kristiansson, Markus Perola, Jaana Lindström, Amy J Swift, Matti Uusitupa, Mustafa Atalay, Timo A Lakka, Rainer Rauramaa, Jennifer L Bolton, Gerry Fowkes, Ross M Fraser, Jackie F Price, Krista Fischer, Kaarel Krjutå Kov, Andres Metspalu, Evelin Mihailov, Claudia Langenberg, Jian'an Luan, Ken K Ong, Peter S Chines, Sirkka M Keinanen-Kiukaanniemi, Timo E Saaristo, Sarah Edkins, Paul W Franks, Göran Hallmans, Dmitry Shungin, Andrew David Morris, Colin N A Palmer, Raimund Erbel, Susanne Moebus, Markus M Nöthen, Sonali Pechlivanis, Kristian Hveem, Narisu Narisu, Anders Hamsten, Steve E Humphries, Rona J Strawbridge, Elena Tremoli, Harald Grallert, Barbara Thorand, Thomas Illig, Wolfgang Koenig, Martina Müller-Nurasyid, Annette Peters, Bernhard O Boehm, Marcus E Kleber, Winfried März, Bernhard R Winkelmann, Johanna Kuusisto, Markku Laakso, Dominique Arveiler, Giancarlo Cesana, Kari Kuulasmaa, Jarmo Virtamo, John W G Yarnell, Diana Kuh, Andrew Wong, Lars Lind, Ulf de Faire, Bruna Gigante, Patrik K E Magnusson, Nancy L Pedersen, George Dedoussis, Maria Dimitriou, Genovefa Kolovou, Stavroula Kanoni, Kathleen Stirrups, Lori L Bonnycastle, Inger Njølstad, Tom Wilsgaard, Andrea Ganna, Emil Rehnberg, Aroon Hingorani, Mika Kivimaki, Meena Kumari, Themistocles L Assimes, Inês Barroso, Michael Boehnke, Ingrid B Borecki, Panos Deloukas, Caroline S Fox, Timothy Frayling, Leif C Groop, Talin Haritunians, David Hunter, Erik Ingelsson, Robert Kaplan, Karen L Mohlke, Jeffrey R O'Connell, David Schlessinger, David P Strachan, Kari Stefansson, Cornelia M van Duijn, Gonçalo R Abecasis, Mark I McCarthy, Joel N Hirschhorn, Lu Qi, Ruth J F Loos, Cecilia M Lindgren, Kari E North, Iris M Heid
المصدر: PLoS Genetics, Vol 9, Iss 6, p e1003500 (2013)
وصف الملف: electronic resource
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المؤلفون: Gabriella Sole, Marco Masala, Sandra Lai, Valeria Orrù, Francesca Deidda, Mauro Pala, Magdalena Zoledziewska, Antonella Mulas, Matteo Floris, Andrea Maschio, Edoardo Fiorillo, Serena Sanna, Gonçalo R. Abecasis, Michele Marongiu, Isadora Asunis, Carlo Sidore, Maristella Steri, Cristian Antonio Caria, Francesco Cucca, Paola Forabosco, Fabio Busonero, Susanna Barella, Maristella Pitzalis, David Schlessinger, Stefania Olla
مصطلحات موضوعية: Genetics, education.field_of_study, Population, Mutation (genetic algorithm), Missense mutation, Platelet, Biology, Compound heterozygosity, education, Founder mutation, Genetic association, Enlarged platelets
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7324594a1b1d71bc5a4d3eae6402a826
https://doi.org/10.1101/2020.07.06.20143263 -
10دورية أكاديمية
المؤلفون: Silvia Naitza, Eleonora Porcu, Maristella Steri, Dennis D Taub, Antonella Mulas, Xiang Xiao, James Strait, Mariano Dei, Sandra Lai, Fabio Busonero, Andrea Maschio, Gianluca Usala, Magdalena Zoledziewska, Carlo Sidore, Ilenia Zara, Maristella Pitzalis, Alessia Loi, Francesca Virdis, Roberta Piras, Francesca Deidda, Michael B Whalen, Laura Crisponi, Antonio Concas, Carlo Podda, Sergio Uzzau, Paul Scheet, Dan L Longo, Edward Lakatta, Gonçalo R Abecasis, Antonio Cao, David Schlessinger, Manuela Uda, Serena Sanna, Francesco Cucca
المصدر: PLoS Genetics, Vol 8, Iss 1, p e1002480 (2012)
وصف الملف: electronic resource