Detalhe da pesquisa
1.
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.
Am J Med Genet A
; 173(2): 435-443, 2017 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-27862890
2.
Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?
Mol Cytogenet
; 8: 72, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-26421060