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المؤلفون: Giulio Purgatorio, Fabrizia Pellanera, Cristina Mecucci, Elisa Piselli, Giuseppe Guglielmini, Francesca Milano, Caterina Matteucci, Paolo Gresele, Emanuela Falcinelli, Valeria Di Battista, Loredana Bury
المصدر: Haematologica. 107:1072-1085
مصطلحات موضوعية: biology, business.industry, Angiogenesis, GATA2, Hematology, Resveratrol, biology.organism_classification, chemistry.chemical_compound, Haematopoiesis, chemistry, Downregulation and upregulation, Enos, Cancer research, Medicine, Platelet, business, Transcription factor
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7e085bce0f0b775eb162d560ab68813bTest
https://doi.org/10.3324/haematol.2021.278450Test -
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المؤلفون: Lorenzo Alberio, Claire Pouplard, Dorothée Faille, Caroline Vayne, Nadine Azjenberg, Beng H. Chong, Zohra Ahmadi, Marie-Christine Morel-Kopp, Francisco-Javier Gomez, Noémie Charuel, James W. Smith, François Mullier, Brian R. Curtis, Yves Gruel, Paolo Gresele, Karina Althaus, Tamam Bakchoul, Jérôme Rollin, Andreas Greinacher, Izhac Nazy
المساهمون: UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - (MGD) Laboratoire de biologie clinique
المصدر: Journal of thrombosis and haemostasis, Vol. 20, no. 1, p. 252-259 (2022)
مصطلحات موضوعية: Blood Platelets, Quality Control, medicine.drug_class, standardisation, Monoclonal antibody, Platelet Factor 4, Heparin-induced thrombocytopenia, Medicine, Humans, Platelet, Platelet activation, functional assays, biology, business.industry, Heparin, Communication, Antibodies, Monoclonal, Anticoagulants, Hematology, medicine.disease, Platelet Activation, Thrombocytopenia, platelet factor 4, monoclonal antibody, Immunoglobulin G, Immunology, Monoclonal, biology.protein, heparin-induced thrombocytopenia, Antibody, business, Platelet factor 4, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8742ed6d810e16fc6365804966905d52Test
https://pubmed.ncbi.nlm.nih.gov/34657390Test -
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المؤلفون: Emanuela Falcinelli, Stefania Momi, Paolo Gresele, Loredana Bury, Anna Maria Mezzasoma, Giuseppe Guglielmini
المصدر: Haematologica. 107(7)
مصطلحات موضوعية: Blood Platelets, congenital, hereditary, and neonatal diseases and abnormalities, Hemorrhage, Mice, Von Willebrand factor, LYN, hemic and lymphatic diseases, von Willebrand Factor, Platelet-Type von Willebrand Disease, Von Willebrand disease, medicine, Animals, Platelet, Platelet activation, biology, Chemistry, Hematology, medicine.disease, Thrombocytopenia, Platelet Endothelial Cell Adhesion Molecule-1, GP1BA, von Willebrand Diseases, Platelet Glycoprotein GPIb-IX Complex, biology.protein, Cancer research, Phosphorylation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35fc689650bf1c670641fcd28c28f5a3Test
https://pubmed.ncbi.nlm.nih.gov/34407603Test -
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المؤلفون: José Rivera, Shally Marcellini-Antonio, Loredana Bury, María Piedad Fernández-Pérez, Rocío Benito, Maria Luisa Lozano, Paolo Gresele, Natalia Bohdan, José María Bastida, Ana Marín-Quílez, María Eugenia de la Morena-Barrio, Verónica Palma-Barqueros, José Padilla, Ana Zamora-Cánovas, Shinji Kunishima, Constantino Martínez, Vicente Vicente, Agustin Rodriguez Alen, María Fernanda López-Fernández, Nuria Revilla
المساهمون: Instituto de Salud Carlos III, Fundación Séneca, Fundación Mutua Madrileña, Sociedad Española de Trombosis y Hemostasia, Fondazione Umberto Veronesi, Universidad de Murcia, Junta de Castilla y León
المصدر: Blood Advances
Digital.CSIC. Repositorio Institucional del CSIC
instnameمصطلحات موضوعية: Genetics, Blood Platelets, Hematology, Transfection, Biology, Platelets and Thrombopoiesis, Phenotype, Penetrance, Thrombocytopenia, In vitro, Tubulin, Missense mutation, Humans, Platelet, Platelet activation, Allele, Megakaryocytes
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::160d9320c462db9e0f93c510fb9ebef3Test
http://hdl.handle.net/11391/1503824Test -
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المؤلفون: Paola Giordano, Annarita Tagliaferri, Matteo Luciani, Samantha Pasca, Cristina Santoro, Paolo Gresele, Antonietta Ferretti, Erminia Baldacci, Giovanni Barillari, Massimo Franchini, Federica Riccardi, Antonio Coppola, Giuseppe Lassandro, Ezio Zanon, Rita Santoro, Mariasanta Napolitano, Raimondo De Cristofaro, Giuseppe Lucchini
المساهمون: Franchini, Massimo, Coppola, Antonio, Santoro, Cristina, De Cristofaro, Raimondo, Barillari, Giovanni, Giordano, Paola, Gresele, Paolo, Lassandro, Giuseppe, Napolitano, Mariasanta, Lucchini, Giuseppe, Luciani, Matteo, Ferretti, Antonietta, Baldacci, Erminia, Riccardi, Federica, Santoro, Rita Carlotta, Pasca, Samantha, Zanon, Ezio, Tagliaferri, Annarita
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Hemophilia A, Severe hemophilia A, ABO Blood-Group System, Von Willebrand factor, hemic and lymphatic diseases, Internal medicine, ABO blood group system, ABO blood group, hemophilia, inhibitors, risk factors, Humans, Medicine, In patient, Blood type, biology, business.industry, Hematology, inhibitor, Italy, Hemostasis, biology.protein, Female, Cardiology and Cardiovascular Medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a04c3e4963836df77c9c8ad88903f93aTest
http://hdl.handle.net/11577/3385388Test -
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المؤلفون: Emilia M. Swietlik, Daniel Greene, Na Zhu, Karyn Megy, Marcella Cogliano, Smitha Rajaram, Divya Pandya, Tobias Tilly, Katie A. Lutz, Carrie C.L. Welch, Michael W. Pauciulo, Laura Southgate, Jennifer M. Martin, Carmen M. Treacy, Christopher J. Penkett, Jonathan C. Stephens, Harm J. Bogaard, Colin Church, Gerry Coghlan, Anna W. Coleman, Robin Condliffe, Christina A. Eichstaedt, Mélanie Eyries, Henning Gall, Stefano Ghio, Barbara Girerd, Ekkehard Grünig, Simon Holden, Luke Howard, Marc Humbert, David G. Kiely, Gabor Kovacs, Jim Lordan, Rajiv D. Machado, Robert V. MacKenzie Ross, Colm McCabe, Shahin Moledina, David Montani, Horst Olschewski, Joanna Pepke-Zaba, Laura Price, Christopher J. Rhodes, Werner Seeger, Florent Soubrier, Jay Suntharalingam, Mark R. Toshner, Anton Vonk Noordegraaf, John Wharton, James M. Wild, Stephen John Wort, Allan Lawrie, Martin R. Wilkins, Richard C. Trembath, Yufeng Shen, Wendy K. Chung, Andrew J. Swift, William C. Nichols, Nicholas W. Morrell, Stefan Gräf, Stephen Abbs, Lara Abulhoul, Julian Adlard, Munaza Ahmed, Timothy J. Aitman, Hana Alachkar, David J. Allsup, Philip Ancliff, Richard Antrobus, Ruth Armstrong, Gavin Arno, Sofie Ashford, William J. Astle, Anthony Attwood, Paul Aurora, Christian Babbs, Chiara Bacchelli, Tamam Bakchoul, Siddharth Banka, Tadbir Bariana, Julian Barwell, Joana Batista, Helen E. Baxendale, Phil L. Beales, David L. Bennett, Agnieszka Bierzynska, Tina Biss, Maria A.K. Bitner-Glindzicz, Graeme C. Black, Marta Bleda, Iulia Blesneac, Detlef Bockenhauer, Sara Boyce, John R. Bradley, Gerome Breen, Paul Brennan, Carole Brewer, Matthew Brown, Andrew C. Browning, Michael J. Browning, Rachel J. Buchan, Matthew S. Buckland, Teofila Bueser, Carmen Bugarin Diz, John Burn, Siobhan O. Burns, Oliver S. Burren, Nigel Burrows, Carolyn Campbell, Gerald Carr-White, Keren Carss, Ruth Casey, Mark J. Caulfield, Jenny Chambers, John Chambers, Melanie M.Y. Chan, Floria Cheng, Patrick F. Chinnery, Manali Chitre, Martin T. Christian, Jill Clayton-Smith, Maureen Cleary, Naomi Clements Brod, Elizabeth Colby, Trevor R.P. Cole, Janine Collins, Peter W. Collins, Cecilia J. Compton, H. Terence Cook, Stuart Cook, Nichola Cooper, Paul A. Corris, Nicola S. Curry, Matthew J. Daniels, Mehul Dattani, Louise C. Daugherty, John Davis, Anthony De Soyza, Sri V.V. Deevi, Timothy Dent, Charu Deshpande, Eleanor F. Dewhurst, Peter H. Dixon, Sofia Douzgou, Kate Downes, Anna M. Drazyk, Elizabeth Drewe, Daniel Duarte, Tina Dutt, J. David M. Edgar, Karen Edwards, William Egner, Melanie N. Ekani, Perry Elliott, Wendy N. Erber, Marie Erwood, Maria C. Estiu, Dafydd Gareth Evans, Gillian Evans, Tamara Everington, Hiva Fassihi, Remi Favier, Debra Fletcher, Frances A. Flinter, R. Andres Floto, Tom Fowler, James Fox, Amy J. Frary, Courtney E. French, Kathleen Freson, Mattia Frontini, Abigail Furnell, Daniel P. Gale, Vijeya Ganesan, Michael Gattens, Hossein-Ardeschir Ghofrani, J. Simon R. Gibbs, Kate Gibson, Kimberly C. Gilmour, Nicholas S. Gleadall, Sarah Goddard, Keith Gomez, Pavels Gordins, David Gosal, Jodie Graham, Luigi Grassi, Lynn Greenhalgh, Andreas Greinacher, Paolo Gresele, Philip Griffiths, Sofia Grigoriadou, Detelina Grozeva, Mark Gurnell, Scott Hackett, Charaka Hadinnapola, Rosie Hague, William M. Hague, Matthias Haimel, Matthew Hall, Helen L. Hanson, Eshika Haque, Kirsty Harkness, Andrew R. Harper, Claire L. Harris, Daniel Hart, Ahamad Hassan, Grant Hayman, Alex Henderson, Archana Herwadkar, Jonathan Hoffman, Rita Horvath, Henry Houlden, Arjan C. Houweling, Fengyuan Hu, Gavin Hudson, Aarnoud P. Huissoon, Matthew Hurles, Melita Irving, Louise Izatt, Roger James, Sally A. Johnson, Stephen Jolles, Jennifer Jolley, Dragana Josifova, Neringa Jurkute, Mary A. Kasanicki, Hanadi Kazkaz, Rashid Kazmi, Peter Kelleher, Anne M Kelly, Wilf Kelsall, Carly Kempster, Nathalie Kingston, Nils Koelling, Myrto Kostadima, Ania Koziell, Roman Kreuzhuber, Taco W. Kuijpers, Ajith Kumar, Dinakantha Kumararatne, Manju A. Kurian, Michael A. Laffan, Fiona Lalloo, Michele Lambert, Hana Lango Allen, D. Mark Layton, Claire Lentaigne, Tracy Lester, Adam P. Levine, Rachel Linger, Hilary Longhurst, Lorena E. Lorenzo, Eleni Louka, Paul A. Lyons, Bella Madan, Eamonn R. Maher, Jesmeen Maimaris, Samantha Malka, Sarah Mangles, Rutendo Mapeta, Kevin J. Marchbank, Stephen Marks, Hugh S. Markus, Hanns-Ulrich Marschall, Andrew Marshall, Mary Mathias, Emma Matthews, Heather Maxwell, Paul McAlinden, Mark I. McCarthy, Harriet McKinney, Stuart Meacham, Adam J. Mead, Sarju G. Mehta, Michel Michaelides, Carolyn Millar, Shehla N. Mohammed, Anthony T. Moore, Monika Mozere, Keith W. Muir, Andrew D. Mumford, Andrea H. Nemeth, William G. Newman, Michael Newnham, Sadia Noorani, Paquita Nurden, Jennifer O’Sullivan, Samya Obaji, Chris Odhams, Steven Okoli, Andrea Olschewski, Kai Ren Ong, S. Helen Oram, Elizabeth Ormondroyd, Willem H. Ouwehand, Claire Palles, Sofia Papadia, Soo-Mi Park, David Parry, Smita Patel, Joan Paterson, Andrew Peacock, Simon H. Pearce, Kathelijne Peerlinck, Romina Petersen, Clarissa Pilkington, Kenneth E.S. Poole, Bethan Psaila, Angela Pyle, Richard Quinton, Shamima Rahman, Anupama Rao, F. Lucy Raymond, Paula J. Rayner-Matthews, Augusto Rendon, Tara Renton, Andrew S.C. Rice, Alex Richter, Leema Robert, Irene Roberts, Sarah J. Rose, Robert Ross-Russell, Catherine Roughley, Noemi B.A. Roy, Deborah M. Ruddy, Omid Sadeghi-Alavijeh, Moin A. Saleem, Nilesh Samani, Crina Samarghitean, Alba Sanchis-Juan, Ravishankar B. Sargur, Robert N. Sarkany, Simon Satchell, Sinisa Savic, Genevieve Sayer, John A. Sayer, Laura Scelsi, Andrew M. Schaefer, Sol Schulman, Richard Scott, Marie Scully, Claire Searle, Arjune Sen, W.A. Carrock Sewell, Denis Seyres, Neil Shah, Olga Shamardina, Susan E. Shapiro, Adam C. Shaw, Keith Sibson, Lucy Side, Ilenia Simeoni, Michael A. Simpson, Matthew C. Sims, Suthesh Sivapalaratnam, Damian Smedley, Katherine R. Smith, Kenneth G.C. Smith, Katie Snape, Nicole Soranzo, Olivera Spasic-Boskovic, Simon Staines, Emily Staples, Hannah Stark, Kathleen E. Stirrups, Alex Stuckey, Petros Syrris, R. Campbell Tait, Kate Talks, Rhea Y.Y. Tan, Jenny C. Taylor, John M. Taylor, James E. Thaventhiran, Andreas C. Themistocleous, David Thomas, Ellen Thomas, Moira J. Thomas, Patrick Thomas, Kate Thomson, Adrian J. Thrasher, Chantal Thys, Marc Tischkowitz, Catherine Titterton, Cheng-Hock Toh, Ian P. Tomlinson, Matthew Traylor, Paul Treadaway, Salih Tuna, Ernest Turro, Philip Twiss, Tom Vale, Chris Van Geet, Natalie van Zuydam, Anthony M Vandersteen, Marta Vazquez-Lopez, Julie von Ziegenweidt, Annette Wagner, Quinten Waisfisz, Neil Walker, Suellen M. Walker, James S. Ware, Hugh Watkins, Christopher Watt, Andrew R. Webster, Lucy Wedderburn, Wei Wei, Steven B. Welch, Julie Wessels, Sarah K. Westbury, John-Paul Westwood, Deborah Whitehorn, James Whitworth, Andrew O.M. Wilkie, Catherine Williamson, Brian T. Wilson, Edwin K.S. Wong, Nicholas Wood, Yvette Wood, Christopher Geoffrey Woods, Emma R. Woodward, Austen Worth, Michael Wright, Katherine Yates, Patrick F.K. Yong, Timothy Young, Ping Yu, Patrick Yu-Wai-Man, Eliska Zlamalova, Russel Hirsch, R. James White, Marc Simon, David Badesch, Erika Rosenzweig, Charles Burger, Murali Chakinala, Thenappan Thenappan, Greg Elliott, Robert Simms, Harrison Farber, Robert Frantz, Jean Elwing, Nicholas Hill, Dunbar Ivy, James Klinger, Steven Nathan, Ronald Oudiz, Ivan Robbins, Robert Schilz, Terry Fortin, Jeffrey Wilt, Delphine Yung, Eric Austin, Ferhaan Ahmad, Nitin Bhatt, Tim Lahm, Adaani Frost, Zeenat Safdar, Zia Rehman, Robert Walter, Fernando Torres, Sahil Bakshi, Stephen Archer, Rahul Argula, Christopher Barnett, Raymond Benza, Ankit Desai, Veeranna Maddipati
المساهمون: University of Cambridge [UK] (CAM), Columbia University [New York], University of Sheffield [Sheffield], University of Cincinnati (UC), St George's, University of London, Vrije Universiteit Amsterdam [Amsterdam] (VU), Golden Jubilee National Hospital, Glasgow, Royal Free Hospital [London, UK], Heidelberg University Hospital [Heidelberg], Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Technische Hochschule Mittelhessen - University of Applied Sciences [Giessen] (THM), Fondazione IRCCS Policlinico San Matteo, Hypertension pulmonaire : physiopathologie et innovation thérapeutique (HPPIT), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Universität Heidelberg [Heidelberg], Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Imperial College London, Royal Hallamshire Hospital, University of Graz, Freeman Hospital, Royal United Hospitals Bath (RUH), Great Ormond Street Hospital for Children [London] (GOSH), Royal Papworth Hospital, Cambridge Biomedical Campus, Cambridge, United Kingdom., King‘s College London, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Karl-Franzens-Universität [Graz, Autriche], Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, Swietlik, Emilia [0000-0002-4095-8489], Megy, Karyn [0000-0002-2826-3879], Tilly, Tobias [0000-0002-6762-5342], Stephens, Jonathan [0000-0003-2020-9330], Toshner, Mark [0000-0002-3969-6143], Morrell, Nicholas [0000-0001-5700-9792], Graf, Stefan [0000-0002-1315-8873], Apollo - University of Cambridge Repository, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Karl-Franzens-Universität Graz, HAL-SU, Gestionnaire, British Heart Foundation, The Academy of Medical Sciences
المصدر: Circulation: Genomic and Precision Medicine
Circulation: Genomic and Precision Medicine, American Heart Association, 2020, ⟨10.1161/CIRCGEN.120.003155⟩
Circulation. Genomic and Precision Medicine
Circulation. Genomic and precision medicine, 14(1):e003155. Lippincott Williams and Wilkins Ltd.
morrell 2021, ' Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension ', Circulation. Genomic and precision medicine, vol. 14, no. 1, e003155 . https://doi.org/10.1161/CIRCGEN.120.003155Test
Circulation: Genomic and Precision Medicine, 2020, ⟨10.1161/CIRCGEN.120.003155⟩مصطلحات موضوعية: 0301 basic medicine, Candidate gene, Cardiac & Cardiovascular Systems, genetic association studies, 030204 cardiovascular system & hematology, Biology, Bayesian inference, 03 medical and health sciences, 0302 clinical medicine, Missing heritability problem, pulmonary hypertension, medicine, Family history, Gene, Genetics & Heredity, Genetics, family history, Science & Technology, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Kinase insert domain receptor, computed tomography, General Medicine, Original Articles, medicine.disease, Pulmonary hypertension, Phenotype, 3. Good health, 030104 developmental biology, Cardiovascular System & Cardiology, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Life Sciences & Biomedicine, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, vascular endothelial growth factor receptor
وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::524b66714d301fd180ea8d1d09ee8e86Test
https://hal.sorbonne-universite.fr/hal-03104099Test -
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المؤلفون: Daniel Duarte, Mariana Bonduel, Sri V V Deevi, Kathleen Stirrups, Paolo Gresele, David Allsup, Rutendo Mapeta, Jonathan Stephens, Tadbir K. Bariana, Kathleen Freson, Nihr BioResource, Ernest Turro, Kim Elliott, Nicola Curry, David Keeling, D. J. Perry, Kate Downes, Carolyn M. Millar, Luigi Grassi, Keith Gomez, Nora Butta, Ilenia Simeoni, Emanuela Falcinelli, Peter William Collins, Michele P. Lambert, Christopher J. Penkett, Loredana Bury, John K. Wu, Nick Gleadall, Karina Althaus, Daniel Greene, Bruce Furie, Willem H. Ouwehand, Rachel Linger, Sarah K Westbury, Karyn Megy, Sarah Mangles
المساهمون: Megy, Karyn [0000-0002-2826-3879], Stephens, Jonathan [0000-0003-2020-9330], Downes, Kate [0000-0003-0366-1579], Johnson, Kathleen [0000-0002-6823-3252], Turro Bassols, Ernest [0000-0002-1820-6563], Ouwehand, Willem [0000-0002-7744-1790], Simeoni, Ilenia [0000-0001-5039-2194], Apollo - University of Cambridge Repository
المصدر: Human Mutation
Bury, L, Megy, K, Stephens, J C, Grassi, L, Greene, D, Gleadall, N, Althaus, K, Allsup, D, Bariana, T, Bonduel, M, Butta, N, Collins, P, Curry, N, Deevi, S V V, Downes, K, Duarte, D, Elliott, K, Falcinelli, E, Furie, B, Keeling, D, Lambert, M P, Linger, R, Mangles, S, Mapeta, R, Millar, C M, Penkett, C J, Perry, D J, Stirrups, K, Turro, E, Westbury, S K, Wu, J, Gomez, K, Freson, K, Ouwehand, W H & Gresele, P & Simeoni, I 2019, ' Next-generation sequencing for the diagnosis of MYH9-RD : predicting pathogenic variants ', Human Mutation . https://doi.org/10.1002/humu.23927Test
Bury, L, Megy, K, Stephens, J C, Grassi, L, Greene, D, Gleadall, N, Althaus, K, Allsup, D, Bariana, T K, Bonduel, M, Butta, N V, Collins, P, Curry, N, Deevi, S V V, Downes, K, Duarte, D, Elliott, K, Falcinelli, E, Furie, B, Keeling, D, Lambert, M P, Linger, R, Mangles, S, Mapeta, R, Millar, C M, Penkett, C, Perry, D J, Stirrups, K E, Turro, E, Westbury, S K, Wu, J, Bioresource, N, Gomez, K, Freson, K, Ouwehand, W H, Gresele, P, Simeoni, I, Williamson, C & Dixon, P 2020, ' Next-generation sequencing for the diagnosis of MYH9 -RD: Predicting pathogenic variants ', Human Mutation, vol. 41, no. 1, pp. 277-290 . https://doi.org/10.1002/humu.23927Testمصطلحات موضوعية: Male, Variable severity, Fluorescent Antibody Technique, Gene Expression, high throughput next generation sequencing, Child, Genetics (clinical), Research Articles, 0303 health sciences, Kidney, 030305 genetics & heredity, Chromosome Mapping, High-Throughput Nucleotide Sequencing, Middle Aged, Macrothrombocytes, MYH9‐related disorders, ACMG guidelines, 3. Good health, Clinical Practice, medicine.anatomical_structure, Phenotype, clinical diagnosis, Child, Preschool, Female, ACMG Guidelines, Research Article, Adult, medicine.medical_specialty, Adolescent, Genotype, Platelet disorder, genomics, high throughput sequencing, MYH9-related disorders, variant classification, Biology, DNA sequencing, Evolution, Molecular, 03 medical and health sciences, Young Adult, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Alleles, Genetic Association Studies, 030304 developmental biology, Aged, Myosin Heavy Chains, Genetic variants, Genetic Variation, Infant, medicine.disease, Bleeding diathesis, Mutation
وصف الملف: Print-Electronic; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b150ff99d83e6e6627c2e3b46c3ed5cTest
https://lirias.kuleuven.be/handle/123456789/641720Test -
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المؤلفون: Yasuto Yamaguchi, Xiaomei Ge, Caroline Berube, John Morser, Loredana Bury, Paolo Gresele, Lei Zhao, Lawrence L.K. Leung
المصدر: Blood. 131:353-364
مصطلحات موضوعية: Blood Platelets, 0301 basic medicine, Proteases, Immunology, Hirudin, Adipokine, Inflammation, 030204 cardiovascular system & hematology, Arginine, Cleavage (embryo), Biochemistry, Factor XIa, 03 medical and health sciences, 0302 clinical medicine, Thrombin, Cell-Derived Microparticles, Vascular Biology, medicine, Protein Isoforms, Humans, Chemerin, Amino Acid Sequence, Blood Coagulation, Phospholipids, Factor XI, biology, Chemistry, Hydrolysis, Chemotaxis, Cell Biology, Hematology, Molecular biology, Kinetics, 030104 developmental biology, biology.protein, Intercellular Signaling Peptides and Proteins, Chemokines, medicine.symptom, Peptides, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9982ff3efbc7d08c896fba9f492c5fe5Test
https://doi.org/10.1182/blood-2017-07-792580Test -
9
المؤلفون: Loredana Bury, Paolo Gresele, Emanuela Falcinelli
المصدر: Seminars in Thrombosis and Hemostasis. 42:292-305
مصطلحات موضوعية: Blood Platelets, Platelet Function Tests, Platelet disorder, 030204 cardiovascular system & hematology, Biology, genetic testing, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Genetic Predisposition to Disease, Platelet, Platelet activation, Genotyping, Genetic Association Studies, bleeding, diagnostic algorithm, inherited platelet function disorders, laboratory investigation, Hematology, Cardiology and Cardiovascular Medicine, Blood Platelet Disorders, Genetic testing, medicine.diagnostic_test, Platelet Count, High-Throughput Nucleotide Sequencing, Phenotype, Algorithm, Algorithms, Function (biology), 030215 immunology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::745e0a343d47001f1437d7cfa428f51bTest
https://doi.org/10.1055/s-0035-1570078Test -
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المؤلفون: Timothy A. Springer, Loredana Bury, Emanuela Falcinelli, Paolo Gresele, Joseph E. Italiano, Davide Chiasserini
المصدر: Haematologica. 101:46-56
مصطلحات موضوعية: Platelets, Blood Platelets, Male, 0301 basic medicine, medicine.medical_specialty, Disorders of Platelet Function, Integrin, Integrin alpha2, CHO Cells, Biology, Article, 03 medical and health sciences, Cricetulus, Glanzmann thrombasthenia, Laboratory Hematology, integrin alphaIIbbeta3, Thrombasthenia, Cricetinae, Internal medicine, medicine, Animals, Humans, Platelet, Cytoskeleton, Actin, Actin nucleation, Chinese hamster ovary cell, Integrin beta3, Hematology, Thrombocytopenia, Phenotype, Cell biology, 030104 developmental biology, Endocrinology, Mutation, biology.protein, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05f73d2b2833dcab0a463bd2dc8ef96eTest
https://doi.org/10.3324/haematol.2015.130849Test