Detalhe da pesquisa
1.
eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics.
Hum Mutat
; 40(7): 865-878, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31026367
2.
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.
Hum Mutat
; 40(12): 2230-2238, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31433103
3.
OncoScape: Exploring the cancer aberration landscape by genomic data fusion.
Sci Rep
; 6: 28103, 2016 06 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-27321817
4.
A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx.
PLoS One
; 10(12): e0146035, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26716990