E-LIB Suche - Ergebnisse für: Prata, Maria João

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

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/..

5

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/..

6

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/..

7

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/..

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

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/..

12

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/..

13

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/..

14

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/..

15

Therapeutic strategies based on modified U1 snRNAs and chap..:

Matos, Liliana ; Canals, Isaac ; Dridi, Larbi...
Orphanet Journal of Rare Diseases. 9 (2014) 1 - p. , 2014

Link: https://doi.org/10.1186/..