Detalhe da pesquisa
1.
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype.
Am J Med Genet A
; 176(7): 1549-1558, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30160831
2.
Exploring genome-wide DNA methylation patterns in Aicardi syndrome.
Epigenomics
; 9(11): 1373-1386, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28967789