Detalhe da pesquisa
1.
Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity.
Hum Mutat
; 42(8): 978-989, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34015158
2.
Compensatory epistasis explored by molecular dynamics simulations.
Hum Genet
; 140(9): 1329-1342, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34173867
3.
Essential genetic findings in neurodevelopmental disorders.
Hum Genomics
; 13(1): 31, 2019 07 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31288856
4.
Trans-species polymorphism in humans and the great apes is generally maintained by balancing selection that modulates the host immune response.
Hum Genomics
; 9: 21, 2015 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26337052
5.
A partial duplication of an X-linked gene exclusive of a primate lineage (Macaca).
Gene
; 851: 146997, 2023 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36279952
6.
Complex interactions between p.His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (Na V 1.5).
PeerJ
; 10: e13913, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35996667
7.
GBA3: a polymorphic pseudogene in humans that experienced repeated gene loss during mammalian evolution.
Sci Rep
; 10(1): 11565, 2020 07 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32665690
8.
3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.
Gene
; 594(2): 203-210, 2016 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27601257