E-LIB Suche - Ergebnisse für: Serrano, Catarina

1

A partial duplication of an X-linked gene exclusive of a pr..:

Serrano, Catarina ; Lopes-Marques, Mónica ; Amorim, António..
Gene. 851 (2023) - p. 146997 , 2023

Link: https://doi.org/10.1016/..

2

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/..

3

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/..

4

Compensatory epistasis explored by molecular dynamics simul..:

Serrano, Catarina ; Teixeira, Carla S. S. ; Cooper, David N....
Human Genetics. 140 (2021) 9 - p. 1329-1342 , 2021

Link: https://doi.org/10.1007/..

5

GBA3: a polymorphic pseudogene in humans that experienced r..:

Lopes-Marques, Monica ; Serrano, Catarina ; Cardoso, Ana R....
Scientific Reports. 10 (2020) 1 - p. , 2020

Link: https://doi.org/10.1038/..

6

Essential genetic findings in neurodevelopmental disorders:

Cardoso, Ana R. ; Lopes-Marques, Mónica ; Silva, Raquel M....
Human Genomics. 13 (2019) 1 - p. , 2019

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

7

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spe..:

Fonseca, Helena ; Azevedo, Luisa ; Serrano, Catarina...
Gene. 594 (2016) 2 - p. 203-210 , 2016

Link: https://doi.org/10.1016/..

8

Trans-species polymorphism in humans and the great apes is ..:

Azevedo, Luisa ; Serrano, Catarina ; Amorim, Antonio.
Human Genomics. 9 (2015) 1 - p. , 2015

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

9

Complex interactions between p.His558Arg and linked variant..:

Lopes-Marques, Mónica ; Silva, Raquel ; Serrano, Catarina...
2167-8359. , 2022

Link: http://hdl.handle.net/10..

10

Complex interactions between p.His558Arg and linked variant..:

Lopes-Marques, Mónica ; Silva, Raquel ; Serrano, Catarina...
Lopes-Marques , M , Silva , R , Serrano , C , Gomes , V , Cardoso , A , Prata , M J , Amorim , A & Azevedo , L 2022 , ' Complex interactions between p.His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (NaV1.5) ' , PeerJ , vol. 10 , e13913 . https://doi.org/10.7717/peerj.13913. , 2022

Link: https://ciencia.ucp.pt/e..

11

Essential genetic findings in neurodevelopmental disorders:

Cardoso, Ana R ; Lopes-Marques, Mónica ; Silva, Raquel M...
1473-9542. , 2021

Link: http://hdl.handle.net/10..

12

Common polymorphic OTC variants can act as genetic modifier..:

Lopes‐Marques, Mónica ; Pacheco, Ana Rita ; Peixoto, Maria João...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8362079/. , 2021

Link: http://www.ncbi.nlm.nih...

13

GBA3: a polymorphic pseudogene in humans that experienced r..:

Lopes-Marques, Monica ; Serrano, Catarina ; Cardoso, Ana R...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7360587/. , 2020

Link: http://www.ncbi.nlm.nih...

14

Essential genetic findings in neurodevelopmental disorders:

Cardoso, Ana R ; Lopes-Marques, Mónica ; Silva, Raquel M...
Cardoso , A R , Lopes-Marques , M , Silva , R M , Serrano , C , Amorim , A , Prata , M J & Azevedo , L 2019 , ' Essential genetic findings in neurodevelopmental disorders ' , Human Genomics , vol. 13 , no. 1 , 31 , pp. 1-7 . https://doi.org/10.1186/s40246-019-0216-4. , 2019

Link: https://ciencia.ucp.pt/e..

15

Trans-species polymorphism in humans and the great apes is ..:

Azevedo, Luisa ; Serrano, Catarina ; Amorim, Antonio.
http://www.humgenomics.com/content/9/1/21. , 2015

Link: http://www.humgenomics.c..