Percorrer por autor Carvalho, Filipa

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DataTítuloAutor(es)TipoAcesso
2013An Alu-mediated 1Mb deletion removes Wilms’ tumor 1 (WT1) but not PAX6 in a patient with isolated cryptorchidismSeabra, Catarina; Quental, Sofia; Neto, Ana; Carvalho, Filipa; Gonçalves, João; Fernandes, Susana; Sousa, Mário; Barros, Alberto; Amorim, António; Lopes, Alexandra MconferenceObjectrestrictedAccess
Nov-2010Evidences of large deletions in patients with the Lysosomal Storage Diseases Mucolipidosis type II and III: experimental approaches for picking up both homozygous and heterozygous casesCoutinho, Maria Francisca; Encarnação, Marisa; Carvalho, Filipa; Lacerda, Lúcia; Willbrand, Flemming; Ribeiro, Helena; Prata, Maria João; Alves, SandraconferenceObjectrestrictedAccess
21-Mar-2013Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1Lopes, Alexandra; Aston, Kenneth I.; Thompson, Emma E; Carvalho, Filipa; Gonçalves, João; Huang, N.; Matthiesen, Rune; Noordam, Michiel J.; Quintela, Ines; Ramu, Avinash; Seabra, Catarina; Wilfert, Amy B.; Dai, Juncheng; Downie, Jonathan; Fernandes, Susana; Guo, Xuejiang; Shah, Jiahao; Amorim, Antonio; Barros, Alberto; Carracedo, A.; Hu, Z.; Hurles, M.E.; Moskovtsev, S.; Ober, C.; Paduch, D.A.; Schiffman, J.D.; Schlegel, P.N.; Sousa, M.; Carrell, D.T.; Conrad, D.F.articleopenAccess
16-Mai-2014A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermiaSeabra, Catarina M.; Quental, Sofia; Paula Neto, Ana; Carvalho, Filipa; Gonçalves, João; Paulo Oliveira, João; Fernandes, Susana; Sousa, Mário; Barros, Alberto; Amorim, António; Lopes, Alexandra M.articleembargoedAccess
11-Nov-2014The mutational spectrum of WT1 in male infertilitySeabra, Catarina M.; Quental, Sofia; Lima, Ana C; Carvalho, Filipa; Gonçalves, João; Fernandes, Susana; Pereira, Iris; Silva, Júlia; Marques, Patrícia I.; Sousa, Mário; Barros, Alberto; Seixas, Susana; Amorim, António; Lopes, Alexandra M.articleembargoedAccess
22-Mar-2012Validation of Rare Structural Variants in Portuguese Azoospermic PatientsSeabra, Catarina; Carvalho, Filipa; Gonçalves, João; Mathiesen, Rune; Fernandes, Susana; Ana, Neto; de Sousa, Mário; Barros, Alberto; Amorim, António; Donald, Conrad; Lopes, AlexandraconferenceObjectopenAccess