Detalhe da pesquisa
1.
The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies.
Proc Natl Acad Sci U S A
; 106(29): 12031-6, 2009 Jul 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-19597142
2.
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
Hum Mutat
; 23(2): 147-159, 2004 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-14722918
3.
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.
Am J Hum Genet
; 77(1): 41-53, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15889350