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Ana Isabel Fernandes Grangeia
AuthID:
R-000-K8X
Publications
Confirmed
To Validate
Document Source:
All
Document Type:
All Document Types
Article (22)
Abstract (3)
Review (1)
Year Start - End:
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Order:
Year Dsc
Year Asc
Cit. WOS Dsc
IF WOS Dsc
Cit. Scopus Dsc
IF Scopus Dsc
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Results:
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Confirmed Publications: 26
1
TITLE:
Expanding the genetic spectrum of ALKU syndrome: Compound heterozygosity for two deleterious variants in <i>SMG8</i> gene
Full Text
AUTHORS:
Fernandes, Andre Aires;
Grangeia, Ana
; Dias, Leonor; Guimaraes, Joana;
PUBLISHED:
2023
,
SOURCE:
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
VOLUME:
191,
ISSUE:
8
INDEXED IN:
Scopus
WOS
CrossRef
2
TITLE:
Cat-Eye Syndrome: A Report of Two Cases and Literature Review
AUTHORS:
Gaspar, Nelia S.
;
Rocha, Gustavo
;
Grangeia, Ana
;
Soares, Henrique C.
;
PUBLISHED:
2022
,
SOURCE:
CUREUS JOURNAL OF MEDICAL SCIENCE,
VOLUME:
14,
ISSUE:
6
INDEXED IN:
WOS
CrossRef
:
1
IN MY:
ORCID
3
TITLE:
Clinical Findings on Chromosome Copy Number Variations
AUTHORS:
Leitao, Filipa;
Grangeia, Ana
; Pinto, Joel; Passas, Armanda;
Doria, Sofia
;
PUBLISHED:
2022
,
SOURCE:
NEUROPEDIATRICS,
VOLUME:
53,
ISSUE:
04
INDEXED IN:
Scopus
WOS
CrossRef
:
1
IN MY:
ORCID
4
TITLE:
Congenital myopathies in adults: A diagnosis not to overlook
Full Text
AUTHORS:
Pinto, Maria Joao
;
Passos, Barbara Alves
;
Grangeia, Ana
; Guimaraes, Joana;
Braz, Luis
;
PUBLISHED:
2022
,
SOURCE:
ACTA NEUROLOGICA SCANDINAVICA,
VOLUME:
146,
ISSUE:
2
INDEXED IN:
Scopus
WOS
CrossRef
:
1
IN MY:
ORCID
5
TITLE:
Prenatal diagnosis study using array comparative genomic hybridization for genotype-phenotype correlation in 772 fetuses
Full Text
AUTHORS:
Costa, Beatriz C.
;
Grangeia, Ana
;
Galvao, Joana
; Vaz, Diane; Melo, Monica; Carraca, Teresa;
Ramalho C
;
Doria, Sofia
;
PUBLISHED:
2022
,
SOURCE:
ANNALS OF DIAGNOSTIC PATHOLOGY,
VOLUME:
61
INDEXED IN:
Scopus
WOS
CrossRef
:
1
6
TITLE:
PURA syndrome in a child with severe developmental delay: A challenging diagnosis [Síndrome PURA en una niña con retraso grave del desarrollo: Un diagnóstico desafiante]
AUTHORS:
Nogueira, M;
Melo, C
;
Grangeia, A
; Magalhães, T; Soares, C; Dias, R;
Fonseca, J
; Sampaio, M; Sousa, R;
PUBLISHED:
2022
,
SOURCE:
Revista de Neurologia,
VOLUME:
74,
ISSUE:
5
INDEXED IN:
Scopus
CrossRef
IN MY:
ORCID
7
TITLE:
A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 (RLBP1) gene causes retinitis punctata albescens
AUTHORS:
Torres Costa, S
;
Ferreira, CS
;
Grangeia, A
;
Santos Silva, R
; Brandao, E; Estrela Silva, S;
Falcao Reis, F
;
PUBLISHED:
2021
,
SOURCE:
EUROPEAN JOURNAL OF OPHTHALMOLOGY,
VOLUME:
31,
ISSUE:
3
INDEXED IN:
Scopus
WOS
CrossRef
:
4
IN MY:
ORCID
8
TITLE:
Cone dystrophy with supernormal rod responses: A rare KCNV2 gene variant
AUTHORS:
Esteves Leandro, J;
Torres Costa, S
; Estrela Silva, S;
Santos Silva, R
; Brandão, E;
Grangeia, A
; Fernandes, S; Oliveira, R; Falcão Reis, F;
Rocha Sousa, A
;
PUBLISHED:
2021
,
SOURCE:
European Journal of Ophthalmology
INDEXED IN:
Scopus
CrossRef
:
1
IN MY:
ORCID
9
TITLE:
Two Novel Disease-Causing Variants in the PDE6C Gene Underlying Achromatopsia
Full Text
AUTHORS:
Madeira, Carolina;
Godinho, Goncalo
;
Grangeia, Ana
;
Falcao, Manuel
;
Silva, Renato
;
Carneiro, Angela
;
Brandao, Elisete
; Magalhaes, Augusto;
Falcao Reis, Fernando
;
Estrela Silva, Sergio
;
PUBLISHED:
2021
,
SOURCE:
CASE REPORTS IN OPHTHALMOLOGY,
VOLUME:
12,
ISSUE:
3
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
10
TITLE:
A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia
Full Text
AUTHORS:
Godinho, G
; Madeira, C;
Grangeia, A
; Neves Cardoso, P;
Santos Silva, R
; Brandao, E;
Carneiro, A
; Falcao Reis, F; Estrela Silva, S;
PUBLISHED:
2020
,
SOURCE:
OPHTHALMIC GENETICS,
VOLUME:
41,
ISSUE:
5
INDEXED IN:
Scopus
WOS
CrossRef
:
5
IN MY:
ORCID
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