Detalhe da pesquisa
1.
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.
Hum Mol Genet
; 29(6): 907-922, 2020 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31985013
2.
Loss-of-Function Mutations in NR4A2 Cause Dopa-Responsive Dystonia Parkinsonism.
Mov Disord
; 35(5): 880-885, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31922365
3.
Hunting for the genetic basis of Susac syndrome.
Eur J Neurol
; 28(7): e57-e59, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33773011
4.
16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing.
Eur J Hum Genet
; 30(6): 712-720, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35388186
5.
iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells.
Sci Rep
; 12(1): 14302, 2022 08 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35995809
6.
Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes.
Eur J Paediatr Neurol
; 27: 104-110, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32600977
7.
Increased diagnostic yield in complex dystonia through exome sequencing.
Parkinsonism Relat Disord
; 74: 50-56, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32334381
8.
Co-lethality studied as an asset against viral drug escape: the HIV protease case.
Biol Direct
; 5: 40, 2010 Jun 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-20565756
9.
Identification of genomic features using microsyntenies of domains: domain teams.
Genome Res
; 15(6): 867-74, 2005 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15899966