Detalhe da pesquisa
1.
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.
Hum Mutat
; 41(5): 921-925, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31999386
2.
Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling.
Arch Gynecol Obstet
; 298(2): 289-295, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29808250
3.
RNA-based translation activators for targeted gene upregulation.
Nat Commun
; 14(1): 6827, 2023 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37884512
4.
Sensory Processing Phenotypes in Phelan-McDermid Syndrome and SYNGAP1-Related Intellectual Disability.
Brain Sci
; 12(2)2022 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35203901
5.
Comparison of Treadmill Gait Between a Pediatric-Aged Individual With SYNGAP1-Related Intellectual Disability and a Fraternal Twin.
Front Hum Neurosci
; 16: 918918, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35814954
6.
Resilience, and positive parenting in parents of children with syndromic autism and intellectual disability. Evidence from the impact of the COVID-19 pandemic on family's quality of life and parent-child relationships.
Autism Res
; 15(12): 2381-2398, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36196501
7.
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Genome Med
; 14(1): 113, 2022 09 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36180924
8.
Re-expression of SynGAP protein in adulthood improves translatable measures of brain function and behavior.
Elife
; 82019 04 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31025938
9.
The transcriptional repressor DEC2 regulates sleep length in mammals.
Science
; 325(5942): 866-70, 2009 Aug 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-19679812