Detalhe da pesquisa
1.
Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.
Blood
; 136(17): 1956-1967, 2020 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32693407
2.
Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.
Hum Mutat
; 41(1): 277-290, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31562665
3.
Nbeal2 interacts with Dock7, Sec16a, and Vac14.
Blood
; 131(9): 1000-1011, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29187380
4.
Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.
Haematologica
; 104(5): 1036-1045, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30467204
5.
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
Blood
; 127(23): 2903-14, 2016 06 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26912466
6.
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.
Blood
; 127(23): 2791-803, 2016 06 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27084890
7.
Dawning of the age of genomics for platelet granule disorders: improving insight, diagnosis and management.
Br J Haematol
; 176(5): 705-720, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27984638
8.
A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.
Sci Transl Med
; 8(328): 328ra30, 2016 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26936507
9.
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.
Genome Med
; 7(1): 36, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25949529