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TITLE: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data  Full Text
AUTHORS: Leslie Matalonga; Carles Hernández Ferrer; Davide Piscia; Enzo Cohen; Enzo Cohen; Isabel Cuesta; Daniel Danis; Anne Sophie Denommé Pichon; Anne Sophie Denommé Pichon; Yannis Duffourd; Christian Gilissen; Mridul Johari; Steven Laurie; Shuang Li; Leslie Matalonga; Isabelle Nelson; Sophia Peters; Ida Paramonov; Sivakumar Prasanth; Peter Robinson; Karolis Sablauskas; Marco Savarese; Wouter Steyaert; Joeri K van der Velde; Antonio Vitobello; Antonio Vitobello; Rebecca Schüle; Matthis Synofzik; Ana Töpf; Lisenka E L M Vissers; Lisenka E L M Vissers; Richarda de Voer; Richarda de Voer; Stefan Aretz; Gabriel Capella; Gareth Evans; Jose Garcia Pelaez; Elke Holinski Feder; Nicoline Hoogerbrugge; Andreas Laner; Carla Oliveira; Andreas Rump; Evelin Schröck; Anna Katharina Sommer; Verena Steinke Lange; Iris te Paske; Marc Tischkowitz; Laura Valle; Siddharth Banka; Elisa Benetti; Giorgio Casari; Andrea Ciolfi; Jill Clayton Smith; Bruno Dallapiccola; Elke de Boer; Kornelia Ellwanger; Laurence Faivre; Holm Graessner; Tobias B Haack; Anna Hammarsjö; Marketa Havlovicova; Alexander Hoischen; Anne Hugon; Adam Jackson; Tjitske Kleefstra; Anna Lindstrand; Estrella López Martín; Milan Macek; Manuela Morleo; Vicenzo Nigro; Ann Nordgren; Maria Pettersson; Michele Pinelli; Simone Pizzi; Manuel Posada; Francesca Clementina Radio; Alessandra Renieri; Caroline Rooryck; Lukas Ryba; Martin Schwarz; Marco Tartaglia; Christel Thauvin; Annalaura Torella; Aurélien Trimouille; Alain Verloes; Pavel Votypka; Klea Vyshka; Birte Zurek; Jonathan Baets; Danique Beijer; Gisèle Bonne; Judith Cossins; Teresinha Evangelista; Alessandra Ferlini; Peter Hackman; Michael G Hanna; Rita Horvath; Henry Houlden; Jarred Lau; Hanns Lochmüller; ...More
PUBLISHED: 2021, SOURCE: European Journal of Human Genetics, VOLUME: 29, ISSUE: 9
INDEXED IN: Scopus CrossRef: 17
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TITLE: Spontaneous systolic blood pressure drop early after mechanical thrombectomy predicts dramatic neurological recovery in ischaemic stroke patients
AUTHORS: Mariana Carvalho Dias; Denis Gabriel; Marlene Saraiva; Daniel Campos; Manuel Requena; Alvaro Garcia Tornel; Marian Muchada; Sandra Boned; David Rodriguez Luna; Noelia Rodriguez Villatoro; Jorge Pagola; Jesus Juega; Matias Deck; Marc Ribo; Alejandro Tomasello; Carlos A Molina; Marta Rubiera;
PUBLISHED: 2020, SOURCE: EUROPEAN STROKE JOURNAL
INDEXED IN: Scopus WOS
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TITLE: Angioedema after t-PA Infusion
AUTHORS: Miguel Leal Rato; Mariana Carvalho Dias;
PUBLISHED: 2020, SOURCE: NEW ENGLAND JOURNAL OF MEDICINE, VOLUME: 382, ISSUE: 25
INDEXED IN: Scopus WOS
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TITLE: Characteristics associated with non-response to ursodeoxycholic acid in primary biliary cholangitis
AUTHORS: Dias, T; Santos, A; Carvalho, J; Bento Miranda, M; Sant'anna, M; Calinas, F; Loureiro, R; Martins, A; Alexandrino, G; Cotrim, I; Martins, C; Presa, J; Mesquita, M; Nunes, J; Ferreira, A; Horta e Vale, AHE; Alves, ALC; Pedroto, I; Maia, L; Banhudo, A; Mocanu, I; Laranjo, AM; Lopes, S; Liberal, R; Fonseca, C; Oliveira, J; Gomes, M; Cortez Pinto, H; ...More
PUBLISHED: 2018, SOURCE: International Liver Congress (ILC) in JOURNAL OF HEPATOLOGY, VOLUME: 68
INDEXED IN: WOS
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TITLE: Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes
AUTHORS: Yoshiteru Azuma; Ana Topf; Teresinha Evangelista; Paulo Jose Lorenzoni; Andreas Roos; Pedro Viana; Hidehito Inagaki; Hiroki Kurahashi; Hanns Lochmueller;
PUBLISHED: 2017, SOURCE: NEUROLOGY-GENETICS, VOLUME: 3, ISSUE: 3
INDEXED IN: Scopus WOS
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TITLE: A Framework for Augmented Reality using Non-Central Catadioptric Cameras
AUTHORS: Dias, T; Miraldo, P ; Gonçalves, N;
PUBLISHED: 2016, SOURCE: Journal of Intelligent and Robotic Systems: Theory and Applications
INDEXED IN: Scopus
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TITLE: 3D reconstruction with low resolution, small baseline and high radial distortion stereo images
AUTHORS: Dias, T; Araujo, H; Miraldo, P ;
PUBLISHED: 2016, SOURCE: 10th International Conference on Distributed Smart Cameras, ICDSC 2016 in ACM International Conference Proceeding Series, VOLUME: 12-15-September-2016
INDEXED IN: Scopus CrossRef
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TITLE: The role of the new generation pacemakers in sleep apnea screening  Full Text
AUTHORS: Dias, M; Goncalves, I; Amann, B; Marques, P; Martinho, C; Escaleira, M; Pinto Basto, RP; Sousa, J; Pinto, P; Barbara, C;
PUBLISHED: 2016, SOURCE: 23rd Congress of the European-Sleep-Research-Society in JOURNAL OF SLEEP RESEARCH, VOLUME: 25
INDEXED IN: WOS
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TITLE: Liver and muscle in morbid obesity: The interplay of fatty liver and insulin resistance
AUTHORS: Machado, MV; Ferreira, DMS; Castro, RE; Silvestre, AR; Evangelista, T; Coutinho, J; Carepa, F; Costa, A; Rodrigues, CMP; Cortez Pinto, H;
PUBLISHED: 2016, SOURCE: Obesity Epidemiology, Pathogenesis, and Treatment: A Multidisciplinary Approach
INDEXED IN: Scopus
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