Detalhe da pesquisa
1.
Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases.
Haematologica
; 95(12): 2080-7, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20823128
2.
Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.
J Clin Invest
; 109(4): 475-80, 2002 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-11854319
3.
Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections.
Mov Disord
; 20(6): 764-7, 2005 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15747353