Showing 1 - 11 results of 11 for search 'Celeste Bento', query time: 0.04s
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Talassemia β heterozigotica com triplicação do gene α globínico. by Ma Conceição Constanço, Paula Rocha, Celeste Bento, Helena M Silva
Published 2011-12-01
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A Rare Cause of Cyanosis Since Birth: Hb M-Iwate by Birgül Mutlu, Ebru Yılmaz Keskin, Ana Catarina Oliveira, Luis Relvas, Celeste Bento
Published 2019-11-01
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Variants in the new E1ʹ cryptic exon of the VHL gene associated with congenital erythrocytosis—Description of three cases by Catarina Dantas Rodrigues, Rita Pombal, Janet Pereira, Luís Relvas, Elizabete Cunha, José Carlos Almeida, Tabita Maia, Helena Silva, Celeste Bento
Published 2022-08-01
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PB2510: CHARACTERISATION OF SICKLE CELL DISEASE PATIENTS: A PORTUGUESE REAL-WORLD STUDY (ASCEND) by Maria Manuel Deveza, Inês Nogueira Da Fonseca, Christopher James Ornelas Monteiro Saunders, Marinela Major, Ana Luisa Tome, Joana Martins, Tabita Maia, Celeste Bento, Daniel Brás
Published 2023-08-01
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5610614 ASSESSING PHYSICAL, SOCIAL AND EMOTIONAL IMPACT OF SICKLE CELL DISEASE IN PORTUGUESE PATIENTS: AN OBSERVATIONAL, MULTICENTER STUDY (ASCEND) by C.S. Christopher Saunders, M.M. Marinela Major, A.T. Ana Tomé, J.M. Joana Martins, M.M.D. Maria Manuel Deveza, T.M.M. Tabita Magalhães Maia, C.B. Celeste Bento, I.F. Inês Fonseca, I.M. Inês Moital, D.B. Daniel Brás
Published 2023-04-01
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P1427: RARE ANAEMIA DISORDERS EUROPEAN EPIDEMIOLOGICAL PLATFORM (RADEEP): DISTRIBUTION OF PATIENTS AFFECTED BY RADS IN EUROPE by José Martín Solórzano González, Sara Isabel Reidel, Ines Labidi, Claire Diot Lefebvre, Stella Tamana, Victoria Gutierrez Valle, Eduard van Beers, Raffaella Colombatti, Paola Bianchi, Angelo Loris Brunetta, Dore Peereboom, Frédéric Galactéros, Giovanna Russo, Antonis Kattamis, Laurence Dedeken, Joachim Kunz, Elena Cela, Celeste Bento, Ulf Tedgard, Andreas Glenthøj, Soteroula Christou, Marina Kleanthous, Petros Kountouris, Beatrice Gulbis, Maria Del Mar Mañú Pereira
Published 2023-08-01
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P135: THE CLINGEN HEMOGLOBINOPATHY VARIANT CURATION EXPERT PANEL by C Coralea Stephanou, P Petros Kountouris, C Carsten W Lederer, C Celeste Bento, C Cornelis L Hartveld, J Jan Traeger-Synodinos, J John S Waye, Z Zhiyu Peng, I Irene Fylaktou, H Hashim Halim-Fikri, T Tamara T. Koopmann, L Landry Nfonsam, J Jun Sun, F Franck Nzengu-Lukusa, M Michael Angastiniotis, C Catherine Badens, B Bertha Ibarra Cortes, J Johan T. den Dunnen, J Jacques Elion, S Suthat Fucharoen, K Kyriaki Michailidou, T Thessalia Papasavva, A Antonio Piga, R Raj Ramesar, S Swee Lay Thein, L Léon Tshilolo, Z Zilfalil Bin Alwi, M Marina Kleanthous
Published 2022-01-01
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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases by Alistair T. Pagnamenta, Carme Camps, Edoardo Giacopuzzi, John M. Taylor, Mona Hashim, Eduardo Calpena, Pamela J. Kaisaki, Akiko Hashimoto, Jing Yu, Edward Sanders, Ron Schwessinger, Jim R. Hughes, Gerton Lunter, Helene Dreau, Matteo Ferla, Lukas Lange, Yesim Kesim, Vassilis Ragoussis, Dimitrios V. Vavoulis, Holger Allroggen, Olaf Ansorge, Christian Babbs, Siddharth Banka, Benito Baños-Piñero, David Beeson, Tal Ben-Ami, David L. Bennett, Celeste Bento, Edward Blair, Charlotte Brasch-Andersen, Katherine R. Bull, Holger Cario, Deirdre Cilliers, Valerio Conti, E. Graham Davies, Fatima Dhalla, Beatriz Diez Dacal, Yin Dong, James E. Dunford, Renzo Guerrini, Adrian L. Harris, Jane Hartley, Georg Hollander, Kassim Javaid, Maureen Kane, Deirdre Kelly, Dominic Kelly, Samantha J. L. Knight, Alexandra Y. Kreins, Erika M. Kvikstad, Craig B. Langman, Tracy Lester, Kate E. Lines, Simon R. Lord, Xin Lu, Sahar Mansour, Adnan Manzur, Reza Maroofian, Brian Marsden, Joanne Mason, Simon J. McGowan, Davide Mei, Hana Mlcochova, Yoshiko Murakami, Andrea H. Németh, Steven Okoli, Elizabeth Ormondroyd, Lilian Bomme Ousager, Jacqueline Palace, Smita Y. Patel, Melissa M. Pentony, Chris Pugh, Aboulfazl Rad, Archana Ramesh, Simone G. Riva, Irene Roberts, Noémi Roy, Outi Salminen, Kyleen D. Schilling, Caroline Scott, Arjune Sen, Conrad Smith, Mark Stevenson, Rajesh V. Thakker, Stephen R. F. Twigg, Holm H. Uhlig, Richard van Wijk, Barbara Vona, Steven Wall, Jing Wang, Hugh Watkins, Jaroslav Zak, Anna H. Schuh, Usha Kini, Andrew O. M. Wilkie, Niko Popitsch, Jenny C. Taylor
Published 2023-11-01
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