Detalhe da pesquisa
1.
APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain.
Mol Cell
; 82(1): 90-105.e13, 2022 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34942119
2.
Phenotypic shift in copy number variants: Evidence in 16p11.2 duplication syndrome.
Genet Med
; 25(1): 151-154, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36609147
3.
Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades.
Mol Genet Metab
; 131(3): 325-340, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33069577
4.
Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.
Mol Genet Metab
; 129(3): 193-206, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31980395
5.
Agreement of parent-reported cognitive level with standardized measures among children with autism spectrum disorder.
Autism Res
; 16(6): 1210-1224, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37097835
6.
Availability of Services and Caregiver Burden: Supporting Individuals With Neurogenetic Conditions During the COVID-19 Pandemic.
J Child Neurol
; 36(9): 760-767, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33829918
7.
A pilot investigation of an iOS-based app for toilet training children with autism spectrum disorder.
Autism
; 23(2): 359-370, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29212345
8.
Progress in Understanding and Treating SCN2A-Mediated Disorders.
Trends Neurosci
; 41(7): 442-456, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29691040
9.
Brief report: can metrics of reporting bias enhance early autism screening measures?
J Autism Dev Disord
; 44(9): 2375-80, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24682706
10.
Parenting adults with ASD: lessons for researchers and clinicians.
Narrat Inq Bioeth
; 2(3): 199-205, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-24406888