Detalhe da pesquisa
1.
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Hum Genomics
; 18(1): 44, 2024 Apr 29.
Artigo
Inglês
| MEDLINE | ID: mdl-38685113
2.
Molecular Characterization of Juxtaglomerular Cell Tumors: Evidence of Alterations in MAPK-RAS Pathway.
Mod Pathol
; 37(6): 100492, 2024 Apr 16.
Artigo
Inglês
| MEDLINE | ID: mdl-38614322
3.
Ten simple rules for using public biological data for your research.
PLoS Comput Biol
; 19(1): e1010749, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36602970
4.
VarSight: prioritizing clinically reported variants with binary classification algorithms.
BMC Bioinformatics
; 20(1): 496, 2019 Oct 15.
Artigo
Inglês
| MEDLINE | ID: mdl-31615419
5.
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
medRxiv
; 2023 Aug 04.
Artigo
Inglês
| MEDLINE | ID: mdl-37577678
6.
Genetic factors help explain the variable responses of young children with cystic fibrosis to vitamin D supplements.
Clin Nutr ESPEN
; 51: 367-376, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-36184229
7.
Dynamic behavior of oligomeric inorganic pyrophosphatase explored by quasielastic neutron scattering.
J Phys Chem B
; 116(33): 9917-21, 2012 Aug 23.
Artigo
Inglês
| MEDLINE | ID: mdl-22804561