Detalhe da pesquisa
1.
Coinheritance of PIEZO1 variants and multi-locus red blood cell defects account for the symptomatic phenotype in beta-thalassemia carriers.
Am J Hematol
; 98(6): E130-E133, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36882369
2.
SEC23B Loss-of-Function Suppresses Hepcidin Expression by Impairing Glycosylation Pathway in Human Hepatic Cells.
Int J Mol Sci
; 23(3)2022 Jan 24.
Artigo
Inglês
| MEDLINE | ID: mdl-35163229
3.
One gene, two opposite phenotypes: a case report of hereditary anemia due to a loss-of-function variant in the EPAS1 gene.
Haematologica
; 108(10): 2872-2876, 2023 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37102609
4.
PIEZO1 mutations impact on early clinical manifestations of myelodysplastic syndromes.
Am J Hematol
; 98(4): E72-E75, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36695705
5.
Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants.
Front Genet
; 13: 956723, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36437915
6.
Rapid and portable, lab-on-chip, point-of-care genotyping for evaluating clopidogrel metabolism.
Clin Chim Acta
; 451(Pt B): 240-6, 2015 Dec 07.
Artigo
Inglês
| MEDLINE | ID: mdl-26453416