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Grangeia, Ana
45
results:
Search for persons
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Format
Online (45)
Mediatypes
Articles (Online) (25)
Bookchapter (Online) (1)
OpenAccess-fulltext (19)
Languages
english (40)
portuguese (4)
Sorted by: Relevance
Sorted by: Year
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1
A case of dystrophic epidermolysis bullosa with a rare COL7..:
Amoedo, Patrícia
;
Grangeia, Ana
;
Peralta, Lígia
.
Anais Brasileiros de Dermatologia. 99 (2024) 3 - p. 448-449 , 2024
Link:
https://doi.org/10.1016/..
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2
COL4A1 and Intraventricular Hemorrhage:
Leite de Almeida, Laura
;
Grangeia, Ana
;
Sampaio, Luísa
.
Acta Médica Portuguesa. , 2024
Link:
https://doi.org/10.20344..
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3
Acute Encephalopathy in a 10-Year-Old Patient With Maple Sy..:
Miragaia, Pedro
;
Grangeia, Ana
;
Rodrigues, Esmeralda
..
Cureus. , 2024
Link:
https://doi.org/10.7759/..
?
4
Copy number variations on chromosome 2: impact on human phe..:
Sousa, Beatriz
;
Grangeia, Ana
;
Pinto, Joel
..
Porto Biomedical Journal. 8 (2023) 1 - p. e198 , 2023
Link:
https://doi.org/10.1097/..
?
5
Two Siblings With Recurrent Fevers: The Path to Mevalonate ..:
Pereira-Nunes, Joana
;
Ferreras, Cristina
;
Grangeia, Ana
...
Cureus. , 2023
Link:
https://doi.org/10.7759/..
?
6
Touraine-Solente-Gole syndrome: pathogenic variant in SLCO2..:
Nicolau, Rafaela
;
Beirão, Tiago
;
Guimarães, Francisca
...
Pediatric Rheumatology. 21 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
?
7
Ocular severe involvement in oculofaciocardiodental syndrom..:
Moleiro, Ana Filipa
;
Oliveira, Joana Santos
;
Grangeia, Ana
...
European Journal of Ophthalmology. 34 (2023) 1 - p. NP6-NP11 , 2023
Link:
https://doi.org/10.1177/..
?
8
Expanding the genetic spectrum of ALKU syndrome: Compound h..:
Fernandes, André Aires
;
Grangeia, Ana
;
Dias, Leonor
.
American Journal of Medical Genetics Part A. 191 (2023) 8 - p. 2204-2208 , 2023
Link:
https://doi.org/10.1002/..
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9
Correction to: Touraine-Solente-Gole syndrome: pathogenic v..:
Nicolau, Rafaela
;
Beirão, Tiago
;
Guimarães, Francisca
...
Pediatric Rheumatology. 21 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
?
10
Novel Arthrogryposis Multiplex Congenita Presentation in a ..:
Pereira-Nunes, Joana
;
Vilan, Ana
;
Grangeia, Ana
.
Journal of Investigative Medicine High Impact Case Reports. 11 (2023) - p. 232470962211506 , 2023
Link:
https://doi.org/10.1177/..
?
11
Congenital myopathies in adults: A diagnosis not to overloo:
Pinto, Maria João
;
Passos, Bárbara Alves
;
Grangeia, Ana
..
Acta Neurologica Scandinavica. 146 (2022) 2 - p. 152-159 , 2022
Link:
https://doi.org/10.1111/..
?
12
Ophthalmologic Microvascular changes in Wolfram syndrome:
Maria Cunha, Ana
;
Barbosa‐Breda, João
;
Grangeia, Ana
...
Acta Ophthalmologica. 100 (2022) S267 - p. , 2022
Link:
https://doi.org/10.1111/..
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13
Cat-Eye Syndrome: A Report of Two Cases and Literature Revi..:
Gaspar, NéliaS
;
Rocha, Gustavo
;
Grangeia, Ana
.
Cureus. , 2022
Link:
https://doi.org/10.7759/..
?
14
Prenatal diagnosis study using array comparative genomic hy..:
Costa, Beatriz C.
;
Grangeia, Ana
;
Galvão, Joana
...
Annals of Diagnostic Pathology. 61 (2022) - p. 152059 , 2022
Link:
https://doi.org/10.1016/..
?
15
Cone dystrophy with supernormal rod responses: A rare KCNV2..:
Esteves-Leandro, João
;
Torres-Costa, Sónia
;
Estrela-Silva, Sérgio
...
European Journal of Ophthalmology. 32 (2021) 1 - p. 664-672 , 2021
Link:
https://doi.org/10.1177/..
1-15