Detalhe da pesquisa
1.
Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.
Haematologica
; 101(10): 1170-1179, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27479822
2.
Chediak-Higashi syndrome: description of two novel homozygous missense mutations causing divergent clinical phenotype.
Eur J Haematol
; 92(1): 49-58, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24112114
3.
Allogeneic hematopoietic cell transplantation in an adult patient with Glanzmann thrombasthenia.
Clin Case Rep
; 5(11): 1887-1890, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29152293
4.
Towards the targeted management of Chediak-Higashi syndrome.
Orphanet J Rare Dis
; 9: 132, 2014 Aug 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-25129365
5.
Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study.
Orphanet J Rare Dis
; 9: 213, 2014 Dec 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-25539746
6.
Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: identification of the second HPS7 mutation in a patient presenting late in life.
Thromb Haemost
; 109(4): 766-8, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23364359