Filipa Abreu Gomes de Carvalho


AuthID: R-000-K35

Confirmed Publications: 121



71
TITLE: Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.
AUTHORS: Ferreira, S; Valbuena, C; Carvalho, F ; Oliveira, JP ;
PUBLISHED: 2009, SOURCE: Human genetics, VOLUME: 126, ISSUE: 2
INDEXED IN: Scopus
IN MY: ORCID | CIÊNCIAVITAE
72
73
TITLE: Transmission of KID syndrome by a mosaic parent for a GJB2 mutation  Full Text
AUTHORS: Titeux, M; Mendonca, V; Decha, A; Moreira, E; Magina, S; Maia, A; Lacaze Buzy, L; E Mejia; Torrao, L; Carvalho, F ; Eca Guimaraes, J; Hovnanian, A;
PUBLISHED: 2009, SOURCE: Annual Congress of the French-Speaking-Society-for-Dermatological-Research in JOURNAL OF INVESTIGATIVE DERMATOLOGY, VOLUME: 129, ISSUE: 3
INDEXED IN: WOS
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
74
TITLE: Abnormal alpha-galactosidase mRNA transcripts are present in individuals with apparently normal exonic and splicing-site gene sequence
AUTHORS: Ferreira, S; Viana Baptista, M; Carvalho, F ; Fernandes, S; Ferro, J; Oliveira, JP ;
PUBLISHED: 2008, SOURCE: 8th Annual European Round Table on Fabry Disease in CLINICAL THERAPEUTICS, VOLUME: 30
INDEXED IN: WOS
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
75
TITLE: Abnormal methylation of imprinted genes in human sperm is associated with oligozoospermia
AUTHORS: Marques, CJ ; Costa, P; Vaz, B; Carvalho, F ; Fernandes, S; Barros, A ; Sousa, M ;
PUBLISHED: 2008, SOURCE: MOLECULAR HUMAN REPRODUCTION, VOLUME: 14, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 291
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
76
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78
TITLE: Establishment of genomic imprinting in human spermatogenesis
AUTHORS: Marques, CJ ; Costa, P; Vaz, B; Sousa, S; Carvalho, F ; Fernandes, S; Silva, J; Barros, A ; Sousa, M;
PUBLISHED: 2008, SOURCE: 17th Mammalian Genetics and Development Workshop of the Genetics-Society in GENETICS RESEARCH, VOLUME: 90, ISSUE: 3
INDEXED IN: WOS
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
79
TITLE: Molecular and functional characterization of CBAVD-causing mutations located in CFTR nucleotide-binding domains
AUTHORS: Ana Grangeia ; Rene Barro Soria; Filipa Carvalho ; Ana M Damas ; Ana Colette Mauricio ; Karl Kunzelmann ; Alberto Barros ; Mario Sousa ;
PUBLISHED: 2008, SOURCE: CELLULAR PHYSIOLOGY AND BIOCHEMISTRY, VOLUME: 22, ISSUE: 1-4
INDEXED IN: Scopus WOS CrossRef: 7
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
80
Page 8 of 13. Total results: 121.

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