Detalhe da pesquisa
1.
Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.
J Immunol
; 207(1): 133-152, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34183371
2.
Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.
Haematologica
; 103(6): 949-958, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29599205
3.
Successful ECMO therapy in a child with COVID-19-associated ARDS and acute lymphoblastic leukemia.
Pediatr Blood Cancer
; 68(9): e29100, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34022118
4.
Functional flow cytometry of monocytes for routine diagnosis of innate primary immunodeficiencies.
J Allergy Clin Immunol
; 145(1): 434-437.e4, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31526803
5.
The expansion of human T-bethighCD21low B cells is T cell dependent.
Sci Immunol
; 6(64): eabh0891, 2021 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34623902
6.
Diagnosis and management of chronic ITP: comments from an ICIS expert group.
Ann Hematol
; 89 Suppl 1: 11-7, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20449748
7.
Favorable outcomes of hematopoietic stem cell transplantation in children and adolescents with Diamond-Blackfan anemia.
Blood Adv
; 4(8): 1760-1769, 2020 04 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32343795
8.
Identification of a novel factor X deletion in combination with a missense mutation in the F10 gene - Genotype-phenotype correlation in a girl with severe factor X deficiency.
Hamostaseologie
; 29(2): 184-6, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19404516
9.
Isolation of new splice isoforms, characterization and expression analysis of the human septin SEPT8 (KIAA0202).
Gene
; 312: 313-20, 2003 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-12909369
10.
Human septin-septin interaction: CDCrel-1 partners with KIAA0202.
FEBS Lett
; 519(1-3): 169-72, 2002 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-12023038
11.
The novel human platelet septin SEPT8 is an interaction partner of SEPT4.
Thromb Haemost
; 91(5): 959-66, 2004 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15116257
12.
Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay.
Thromb Haemost
; 106(3): 475-83, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21800012
13.
High incidence of t(7;12)(q36;p13) in infant AML but not in infant ALL, with a dismal outcome and ectopic expression of HLXB9.
Genes Chromosomes Cancer
; 45(8): 731-9, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16646086