Detalhe da pesquisa
1.
ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.
Hum Mol Genet
; 32(9): 1429-1438, 2023 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36440975
2.
Impact of DNA source on genetic variant detection from human whole-genome sequencing data.
J Med Genet
; 56(12): 809-817, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31515274
3.
STXBP1 encephalopathy is associated with awake bruxism.
Epilepsy Behav
; 92: 121-124, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30654231
4.
Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.
Eur J Hum Genet
; 23(3): 310-6, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24961627
5.
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.
Eur J Hum Genet
; 18(4): 429-35, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19920853