Detalhe da pesquisa
1.
Usefulness and Limitations of Multiple Ligation-Dependent Probe Amplification in Antithrombin Deficiency.
Int J Mol Sci
; 24(5)2023 Mar 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36902454
2.
The whole is greater than the sum of its parts: Long-read sequencing for solving clinical problems in haematology.
J Cell Mol Med
; 28(3): e17961, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-38260950
3.
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
4.
Impact of genetic structural variants in factor XI deficiency: identification, accurate characterization, and inferred mechanism by long-read sequencing.
J Thromb Haemost
; 21(7): 1779-1788, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36940803
5.
Implication of Hepsin from Primary Tumor in the Prognosis of Colorectal Cancer Patients.
Cancers (Basel)
; 14(13)2022 Jun 24.
Artigo
Inglês
| MEDLINE | ID: mdl-35804878
6.
Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect.
JCI Insight
; 7(19)2022 10 10.
Artigo
Inglês
| MEDLINE | ID: mdl-36214221
7.
Identification of Thrombosis-Related Genes in Patients with Advanced Gastric Cancer: Data from AGAMENON-SEOM Registry.
Biomedicines
; 10(1)2022 Jan 11.
Artigo
Inglês
| MEDLINE | ID: mdl-35052827