Detalhe da pesquisa
1.
Inherited Platelet Disorders: An Updated Overview.
Int J Mol Sci
; 22(9)2021 Apr 26.
Artigo
Inglês
| MEDLINE | ID: mdl-33926054
2.
Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.
Haematologica
; 103(1): 148-162, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28983057
3.
A novel genetic variant in PTGS1 affects N-glycosylation of cyclooxygenase-1 causing a dominant-negative effect on platelet function and bleeding diathesis.
Am J Hematol
; 96(3): E83-E88, 2021 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33326144
4.
Identification of the first large intronic deletion responsible of type I antithrombin deficiency not detected by routine molecular diagnostic methods.
Br J Haematol
; 186(4): e82-e86, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30941754
5.
Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders.
J Thromb Haemost
; 22(3): 851-859, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38007062
6.
Platelet transcriptome analysis in patients with germline RUNX1 mutations.
J Thromb Haemost
; 21(5): 1352-1365, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36736831
7.
Src-related thrombocytopenia: a fine line between a megakaryocyte dysfunction and an immune-mediated disease.
Blood Adv
; 6(17): 5244-5255, 2022 09 13.
Artigo
Inglês
| MEDLINE | ID: mdl-35349645
8.
Management of acquired hemophilia A: results from the Spanish registry.
Blood Adv
; 5(19): 3821-3829, 2021 10 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34521101
9.
High levels of latent antithrombin in plasma from patients with antithrombin deficiency.
Thromb Haemost
; 117(5): 880-888, 2017 05 03.
Artigo
Inglês
| MEDLINE | ID: mdl-28229161