Detalhe da pesquisa
1.
Haploinsufficiency of BAZ1B contributes to Williams syndrome through transcriptional dysregulation of neurodevelopmental pathways.
Hum Mol Genet
; 25(7): 1294-306, 2016 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26755828
2.
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.
J Inherit Metab Dis
; 39(5): 733-741, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27342130
3.
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Eur J Hum Genet
; 27(3): 408-421, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30552426
4.
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.
Eur J Hum Genet
; 27(5): 747-759, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30664714
5.
Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior abnormalities.
Eur J Med Genet
; 58(5): 319-23, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25858704
6.
De-novo Williams-Beuren and inherited Marfan syndromes in a patient with developmental delay and lens dislocation.
Clin Dysmorphol
; 26(3): 187-189, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28277377