Hemophagocytic lymphohistiocytosis in an adolescent with NLRP12 ‐related autoinflammatory disorder—A case report
Hormigo, Inês, Valente Pinto, Marta, Cordeiro, Ana Isabel, Henriques, Cristina, Martins, Catarina, Parente Freixo, João, Conde, Marta, Gouveia, Catarina, Farela Neves, João
Published in Pediatric allergy and immunology (01.09.2023)
Published in Pediatric allergy and immunology (01.09.2023)
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A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis
Marujo, Filipa, Pelham, Simon J., Freixo, João, Cordeiro, Ana Isabel, Martins, Catarina, Casanova, Jean-Laurent, Lei, Wei-Te, Puel, Anne, Neves, João Farela
Published in Journal of clinical immunology (01.08.2021)
Published in Journal of clinical immunology (01.08.2021)
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Continuous venovenous haemodiafiltration as a solution for acute intoxication with sodium valproate
Gonçalves, J Albuquerque, Santos, C, Montalbán, J M, Filipe, R Alves, Chorão, R, Freixo, J, Ramalheiro, A, Bernardo, A, Iglesias, A B, Rocha, E
Published in Nefrología (2010)
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Published in Nefrología (2010)
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Case Report: Primary Immunodeficiencies, Massive EBV+ T-Cell Lympoproliferation Leading to the Diagnosis of ICF2 Syndrome
Padeira, Gonçalo Luzes, Araújo, Catarina, Cordeiro, Ana Isabel, Freixo, João, Martins, Catarina Gregório, Neves, João Farela
Published in Frontiers in immunology (28.04.2021)
Published in Frontiers in immunology (28.04.2021)
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Case Report: Patient with deficiency of ADA2 presenting leukocytoclastic vasculitis and pericarditis during infliximab treatment
Simão Raimundo, Diana, Cordeiro, Ana Isabel, Parente Freixo, João, Valente Pinto, Marta, Neves, Conceição, Farela Neves, João
Published in Frontiers in pediatrics (14.06.2023)
Published in Frontiers in pediatrics (14.06.2023)
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Hereditary breast cancer and ancestry in the Madeira archipelago: an exploratory study
Miguel, Isália, Rodrigues, Fátima, Fragoso, Sofia, Freixo, João, Clara, Ana, Luis, Ana, Bento, Sandra, Fernandes, Mariana, Bacelar, Filipe, Câmara, Sara, Parreira, Joana, Duarte, Teresa, Rodrigues, Paula, Santos, Sidónia, Vaz, Fátima
Published in Ecancermedicalscience (05.07.2021)
Published in Ecancermedicalscience (05.07.2021)
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X-linked hypophosphatemic rickets: a new mutation
Maio, Patrícia, Mano, Lia, Rocha, Sara, Baptista, Rute Baeta, Francisco, Telma, Sousa, Helena, Freixo, João Parente, Abranches, Margarida
Published in Brazilian Journal of Nephrology (01.01.2021)
Published in Brazilian Journal of Nephrology (01.01.2021)
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Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases
Castro, Ana Costa E, Maia, Raquel, Batalha, Sara, Freixo, João Parente, Martins, Catarina, Neves, Conceição, Cordeiro, Ana Isabel, Neves, João Farela
Published in Frontiers in immunology (03.05.2022)
Published in Frontiers in immunology (03.05.2022)
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CITOGENÉTICA DE PRÓXIMA GERAÇÃO: IMPLEMENTAÇÃO E PRIMEIROS RESULTADOS EM PORTUGAL
David, Dezso, Oliva-Teles, Natália, Freixo, J, Fortuna, Ana, Tkachenko, Natalyia, Carvalho, Isabel, Marques, M, Cardoso, M, Fino, J, Marques, Bárbara, Alves, AC, Dória, Sofia, de Moura, Carla Pinto, Carreira, Isabel Marques, Correia, Hildeberto, Gonçalves, RM, Lavinha, João, Kay, Teresa, Talkowski, Michael E, Morton, Cynthia Casson
Published in Nascer e crescer (27.12.2016)
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Published in Nascer e crescer (27.12.2016)
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