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1.
Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.
Haematologica
; 103(1): 148-162, 2018 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28983057
2.
Use of eltrombopag for secondary immune thrombocytopenia in clinical practice.
Br J Haematol
; 178(6): 959-970, 2017 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-28573819
3.
PTGS1 gene variations associated with bleeding and platelet dysfunction.
Platelets
; 32(5): 710-716, 2021 Jul 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-32584621
4.
Thrombotic risk and features of patients with inferior vena cava agenesis: a multicentre, retrospective, observational study.
Lancet Haematol
; 2024 Jun 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-38878784
5.
A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger.
Cells
; 11(20)2022 10 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-36291092
6.
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
J Thromb Haemost
; 19(10): 2612-2617, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34355501
7.
Expanding the genetic spectrum of TUBB1-related thrombocytopenia.
Blood Adv
; 5(24): 5453-5467, 2021 12 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-34516618
8.
GENYOi005-A: An induced pluripotent stem cells (iPSCs) line generated from a patient with Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM) carrying a p.Thr196Ala variant.
Stem Cell Res
; 41: 101603, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31698193
9.
Circulation assessment by automated external defibrillators during cardiopulmonary resuscitation.
Resuscitation
; 128: 158-163, 2018 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29733921
10.
Corrigendum to GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis [J Thromb Haemost. 2021 Oct;19(10):2612-2617].
J Thromb Haemost
; 21(4): 1067, 2023 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-36737374
11.
HLA specificities are associated with prognosis in IGHV-mutated CLL-like high-count monoclonal B cell lymphocytosis.
PLoS One
; 12(3): e0172978, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28249016
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