Filipa Abreu Gomes de Carvalho


AuthID: R-000-K35

Confirmed Publications: 123



31
TITLE: Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia
AUTHORS: Laura Kasak; Margus Punab; Liina Nagirnaja; Marina Grigorova; Ave Minajeva; Alexandra M Lopes; Anna Maria Punab; Kenneth I Aston; Filipa Carvalho ; Eve Laasik; Lee B Smith; Donald F Conrad; Maris Laan;
PUBLISHED: 2018, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 103, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 102
IN MY: ORCID | CIÊNCIAVITAE
32
33
TITLE: Clinical outcomes after preimplantation genetic diagnosis of patients with Corino de Andrade disease (familial amyloid polyneuropathy)
AUTHORS: Rita Lopes; Mario Sousa ; Joaquina Silva; Mariana Cunha; Cristiano Oliveira; Jose Teixeira da Silva; Luis Ferraz; Teresa Coelho; Filipa Carvalho ; Alberto Barros ;
PUBLISHED: 2018, SOURCE: REPRODUCTIVE BIOMEDICINE ONLINE, VOLUME: 36, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 8
IN MY: ORCID | CIÊNCIAVITAE
34
TITLE: Spectrum of CFTR gene sequence variants in a northern Portugal population
AUTHORS: Grangeia, A ; Alves, S; Goncalves, L; Gregorio, I; Santos, AC ; Barros, H ; Barros, A ; Carvalho, F ; Carla Pinto Moura ;
PUBLISHED: 2018, SOURCE: PULMONOLOGY, VOLUME: 24, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
35
TITLE: The clinical utility of PGD with HLA matching: a collaborative multi-centre ESHRE study
AUTHORS: Kakourou, G; Kahraman, S; Ekmekci, GC; Tac, HA; Kourlaba, G; Kourkouni, E; Cervero C Sanz; Martin, J; Malmgren, H; Gimenez, C; Gold, V; Carvalho, F ; Billi, C; Chow, JFC; Vendrell, X; Kokkali, G; Liss, J; Steffann, J; Traeger Synodinos, J;
PUBLISHED: 2018, SOURCE: HUMAN REPRODUCTION, VOLUME: 33, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 20
IN MY: ORCID | CIÊNCIAVITAE
36
37
TITLE: Sequence variation at KLK and WFDC clusters and its association to semen hyperviscosity and other male infertility phenotypes
AUTHORS: Marques, PI; Fonseca, F; Carvalho, AS; Puente, DA; Damiao, I; Almeida, V ; Barros, N; Barros, A ; Carvalho, F ; Azkargorta, M; Elortza, F; Osorio, H; Matthiesen, R; Quesada, V; Seixas, S;
PUBLISHED: 2016, SOURCE: HUMAN REPRODUCTION, VOLUME: 31, ISSUE: 12
INDEXED IN: Scopus WOS CrossRef: 9 Handle
IN MY: ORCID
38
TITLE: Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families. Collagen type IV-related nephropathies in Portugal  Full Text
AUTHORS: Sa, MJN; Storey, H; Flinter, F; Nagel, M; Sampaio, S; Castro, R; Araujo, JA; Gaspar, MA; Soares, C; Oliveira, A; Henriques, AC; da Costa, AG; Abreu, CP; Ponce, P; Alves, R; Pinho, L; Silva, SE; Carla Pinto Moura ; Mendonca, L; Carvalho, F ; Pestana, M ; Alves, S; Carvalho, F ; Oliveira, JP ; ...More
PUBLISHED: 2015, SOURCE: CLINICAL GENETICS, VOLUME: 88, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 16
IN MY: ORCID | CIÊNCIAVITAE
39
TITLE: Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families. COL4A5 -related nephropathies in Portugal   Full Text
AUTHORS: Sa, MJN; Sampaio, S ; Oliveira, A; Alves, S; Carla Pinto Moura ; Silva, SE; Castro, R; Araujo, JA; Rodrigues, M; Neves, F; Seabra, J; Soares, C; Gaspar, MA; Tavares, I ; Freitas, L; Sousa, TC; Henriques, AC; Costa, FT; Morgado, E; Sousa, FT; Sousa, JP; da Costa, AG; Filipe, R; Garrido, J; Montalban, J; Ponce, P; Alves, R; Faria, B; Carvalho, MF; Pestana, M ; Carvalho, F ; Oliveira, JP ; ...More
PUBLISHED: 2015, SOURCE: CLINICAL GENETICS, VOLUME: 88, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 6
IN MY: ORCID | CIÊNCIAVITAE
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Page 4 of 13. Total results: 123.

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