Detalhe da pesquisa
1.
Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay.
Hum Mutat
; 28(8): 830, 2007 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-17623483
2.
Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features.
Neurogenetics
; 12(2): 165-7, 2011 May.
Artigo
Inglês
| MEDLINE | ID: mdl-21318334
3.
Diagnostic proceeding in Silver-Russell syndrome.
Mol Diagn
; 9(4): 205-9, 2005.
Artigo
Inglês
| MEDLINE | ID: mdl-16392900