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Filipa Abreu Gomes de Carvalho
AuthID:
R-000-K35
Publications
Confirmed
To Validate
Document Source:
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Document Type:
All Document Types
Article (90)
Abstract (23)
Proceedings Paper (3)
Letter (2)
Note (2)
Review (1)
Article in Press (1)
Phd Thesis (1)
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Order:
Year Dsc
Year Asc
Cit. WOS Dsc
IF WOS Dsc
Cit. Scopus Dsc
IF Scopus Dsc
Title Asc
Title Dsc
Results:
10
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Confirmed Publications: 123
81
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
82
TITLE:
The g.1170C > T polymorphism of the 5 ' untranslated region of the human alpha-galactosidase gene is associated with decreased enzyme expression-Evidence from a family study
Full Text
AUTHORS:
Oliveira, JP
;
Ferreira, S
;
Reguenga, C
;
Carvalho, F
; Mansson, JE;
PUBLISHED:
2008
,
SOURCE:
JOURNAL OF INHERITED METABOLIC DISEASE,
VOLUME:
31,
ISSUE:
S2
INDEXED IN:
Scopus
WOS
CrossRef
:
17
IN MY:
ORCID
|
ResearcherID
|
CIÊNCIAVITAE
83
TITLE:
A complex case at prenatal diagnosis
AUTHORS:
Pinto Leite; Souto, M; Carvalho, B; Marques, B;
Carvalho, F
; Ribeiro, E;
PUBLISHED:
2007
,
SOURCE:
6th European Cytogenetics Conference
in
CHROMOSOME RESEARCH,
VOLUME:
15
INDEXED IN:
WOS
IN MY:
ORCID
|
ResearcherID
|
CIÊNCIAVITAE
84
TITLE:
Analysis of H19 and MEST/PEG1 and Line 1 transposon methylation patterns in oligozoospermia
AUTHORS:
Carvalho, F
;
Marques, CJ
;
Costa, P
; Vaz, B; Fernandes, S; Arnaud, P;
Barros, A
; Sousa, M;
PUBLISHED:
2007
,
SOURCE:
23rd Annual Meeting of the European-Society-of-Human-Reproduction-and-Embryology
in
HUMAN REPRODUCTION,
VOLUME:
22
INDEXED IN:
WOS
IN MY:
ORCID
|
ResearcherID
|
CIÊNCIAVITAE
85
TITLE:
Evidence for selective low leukocyte enzyme activity levels associated with the G1170C > T 5 ' untranslated polymorphism of the alpha-galactosidase A gene
Full Text
AUTHORS:
Ferreira, S; Barcelo, J;
Carvalho, F
; Mansson, JE;
Oliveira, JP
;
PUBLISHED:
2007
,
SOURCE:
7th Annual European Round Table on Fabry Disease
in
CLINICAL THERAPEUTICS,
VOLUME:
29
INDEXED IN:
WOS
CrossRef
IN MY:
ORCID
|
CIÊNCIAVITAE
86
TITLE:
Frequency of 5 ' untranslated region single nucleotide polymorphisms of the alpha-Galactosidase A gene in the Portuguese population
AUTHORS:
Ferreira, S; Barcelo, J;
Carvalho, F
;
Oliveira, JP
;
PUBLISHED:
2007
,
SOURCE:
7th Annual European Round Table on Fabry Disease
in
CLINICAL THERAPEUTICS,
VOLUME:
29
INDEXED IN:
WOS
IN MY:
ORCID
|
ResearcherID
|
CIÊNCIAVITAE
87
TITLE:
Genetic expression of mammalian stem cell markers in the human male germ line
AUTHORS:
Sa, R
;
Carvalho, F
; Leite, C;
Barros, A
; Sousa, M;
PUBLISHED:
2007
,
SOURCE:
23rd Annual Meeting of the European-Society-of-Human-Reproduction-and-Embryology
in
HUMAN REPRODUCTION,
VOLUME:
22
INDEXED IN:
WOS
IN MY:
ORCID
|
ResearcherID
|
CIÊNCIAVITAE
88
TITLE:
Heritable genomic imprinting defects in infertile patients with oligozoospermia and azoospermia [Alteração transmissível do imprinting genómico em pacientes inférteis por oligozoospermia e azoospermia]
AUTHORS:
Marques, CJ
; Vaz, B; Costa, P; Sousa, S;
Carvalho, F
; Fernandes, S; Silva, J;
Sousa, M
;
Barros, A
;
PUBLISHED:
2007
,
SOURCE:
Arquivos de Medicina,
VOLUME:
21,
ISSUE:
2
INDEXED IN:
Scopus
IN MY:
ORCID
|
CIÊNCIAVITAE
89
TITLE:
Molecular characterisation of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens
AUTHORS:
Grangeia, A
;
Sa, R
;
Carvalho, F
; Martin, J; Girodon, E; Ferraz, L;
Barros, A
; Sousa, M;
PUBLISHED:
2007
,
SOURCE:
23rd Annual Meeting of the European-Society-of-Human-Reproduction-and-Embryology
in
HUMAN REPRODUCTION,
VOLUME:
22
INDEXED IN:
WOS
IN MY:
ORCID
|
ResearcherID
|
CIÊNCIAVITAE
90
TITLE:
Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens
AUTHORS:
Ana Grangeia
;
Rosalia Sa
;
Filipa Carvalho
; Josiane Martin; Emmanuelle Girodon; Joaquina Silva; Luis Ferraz;
Alberto Barros
;
Mario Sousa
;
PUBLISHED:
2007
,
SOURCE:
GENETICS IN MEDICINE,
VOLUME:
9,
ISSUE:
3
INDEXED IN:
Scopus
WOS
CrossRef
:
26
IN MY:
ORCID
|
ResearcherID
|
CIÊNCIAVITAE
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