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Prata, Maria João
517
results:
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Format
Online (516)
Print (1)
Mediatypes
Articles (Online) (406)
Bookchapter (Online) (9)
Bookchapter (Print) (1)
OpenAccess-fulltext (101)
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1
Modeling Lysosomal Storage Disorders in an Innovative Way: ..:
Carvalho, Sofia
;
Santos, Juliana Inês
;
Moreira, Luciana
...
International Journal of Molecular Sciences. 25 (2024) 6 - p. 3546 , 2024
Link:
https://doi.org/10.3390/..
?
2
Splicing Modulation as a Promising Therapeutic Strategy for..:
Santos, Juliana Inês
;
Gonçalves, Mariana
;
Matos, Liliana
...
Life. 12 (2022) 5 - p. 608 , 2022
Link:
https://doi.org/10.3390/..
?
3
Complex interactions between p.His558Arg and linked variant..:
Lopes-Marques, Monica
;
Silva, Raquel
;
Serrano, Catarina
...
PeerJ. 10 (2022) - p. e13913 , 2022
Link:
https://doi.org/10.7717/..
?
4
Common polymorphicOTCvariants can act as genetic modifiers ..:
Lopes‐Marques, Mónica
;
Pacheco, Ana Rita
;
Peixoto, Maria João
...
Human Mutation. 42 (2021) 8 - p. 978-989 , 2021
Link:
https://doi.org/10.1002/..
?
5
Evolutionary dynamics of the human pseudoautosomal regions:
Monteiro, Bruno
;
Arenas, Miguel
;
Prata, Maria João
..
PLOS Genetics. 17 (2021) 4 - p. e1009532 , 2021
Link:
https://doi.org/10.1371/..
?
6
Lysosomal Storage Disease-Associated Neuropathy: Targeting ..:
Coutinho, Maria Francisca
;
Santos, Juliana Inês
;
S. Mendonça, Liliana
...
International Journal of Molecular Sciences. 21 (2020) 16 - p. 5732 , 2020
Link:
https://doi.org/10.3390/..
?
7
Molecular Characterization of a Novel Splicing Mutation Und..:
Coutinho, Maria Francisca
;
Encarnação, Marisa
;
Matos, Liliana
...
Diagnostics. 10 (2020) 2 - p. 58 , 2020
Link:
https://doi.org/10.3390/..
?
8
European Roma groups show complex West Eurasian admixture f..:
Font-Porterias, Neus
;
Arauna, Lara R.
;
Poveda, Alaitz
...
PLOS Genetics. 15 (2019) 9 - p. e1008417 , 2019
Link:
https://doi.org/10.1371/..
?
9
The Eastern side of the Westernmost Europeans: Insights fro..:
Manco, Licínio
;
Albuquerque, Joana
;
Sousa, Maria Francisca
...
American Journal of Human Biology. 30 (2017) 2 - p. , 2017
Link:
https://doi.org/10.1002/..
?
10
Y chromosome diversity in a linguistic isolate (Mirandese, ..:
Marques, Sofia L.
;
Gusmão, Leonor
;
Amorim, Antonio
..
American Journal of Human Biology. 28 (2016) 5 - p. 671-680 , 2016
Link:
https://doi.org/10.1002/..
?
11
Mosaic maternal ancestry in the Great Lakes region of East ..:
Gomes, Verónica
;
Pala, Maria
;
Salas, Antonio
...
Human Genetics. 134 (2015) 9 - p. 1013-1027 , 2015
Link:
https://doi.org/10.1007/..
?
12
Functional analysis of splicing mutations in the IDS gene a..:
Matos, Liliana
;
Gonçalves, Vânia
;
Pinto, Eugénia
...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1852 (2015) 12 - p. 2712-2721 , 2015
Link:
https://doi.org/10.1016/..
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13
Data in support of a functional analysis of splicing mutati..:
Matos, Liliana
;
Gonçalves, Vânia
;
Pinto, Eugénia
...
Data in Brief. 5 (2015) - p. 810-817 , 2015
Link:
https://doi.org/10.1016/..
?
14
Portuguese mitochondrial DNA genetic diversity—An update an..:
Marques, Sofia L.
;
Goios, Ana
;
Rocha, Ana M.
...
Forensic Science International: Genetics. 15 (2015) - p. 27-32 , 2015
Link:
https://doi.org/10.1016/..
?
15
Prenatal skeletal dysplasia phenotype in severe MLII alpha/..:
Aggarwal, Shagun
;
Coutinho, Maria Francisca
;
Dalal, Ashwin B.
...
Gene. 542 (2014) 2 - p. 266-268 , 2014
Link:
https://doi.org/10.1016/..
1-15