Detalhe da pesquisa
1.
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Genet Med
; 24(6): 1261-1273, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35341651
2.
Sensory processing in Sotos syndrome and Tatton-Brown-Rahman Syndrome.
J Psychopathol Clin Sci
; 132(6): 768-778, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37289542
3.
Short report: Behavioural characterisation of SOX11 syndrome.
Res Dev Disabil
; 143: 104623, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37924570
4.
Sensory processing in 16p11.2 deletion and 16p11.2 duplication.
Autism Res
; 15(11): 2081-2098, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36053814
5.
Spontaneous neural activity relates to psychiatric traits in 16p11.2 CNV carriers: An analysis of EEG spectral power and multiscale entropy.
J Psychiatr Res
; 136: 610-618, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33158556
6.
Atypical neural variability in carriers of 16p11.2 copy number variants.
Autism Res
; 12(9): 1322-1333, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31260176
7.
Resources available for autism research in the big data era: a systematic review.
PeerJ
; 5: e2880, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28097074
8.
Speech, language and communication phenotyping in rare genetic syndromes: Commentary on Speech and language deficits are central to SETBP1 haploinsufficiency disorder.
Eur J Hum Genet
; 29(8): 1166-1167, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34413496
9.
Variability of cortical oscillation patterns: A possible endophenotype in autism spectrum disorders?
Neurosci Biobehav Rev
; 71: 590-600, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27746319