Detalhe da pesquisa
1.
Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity.
Hum Mol Genet
; 29(5): 705-715, 2020 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31600777
2.
Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.
Am J Med Genet A
; 182(6): 1426-1437, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32275123
3.
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Genet Med
; 21(8): 1797-1807, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30679821
4.
Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome.
J Med Genet
; 55(5): 307-315, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29496979
5.
Sleep spindle activity is associated with state- and trait-based emotion in healthy school-aged children.
Sleep Med
; 113: 56-60, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37984018
6.
Do weighted blankets improve sleep among children with a history of maltreatment? A randomized controlled crossover trial.
J Clin Sleep Med
; 2024 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38607244
7.
Increased symptom severity in adults and adolescents admitting to an inpatient psychiatric hospital during the COVID-19 pandemic.
Psychiatry Res
; 316: 114758, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35944372
8.
Polysomnographic characteristics and sleep-disordered breathing in Schaaf-Yang syndrome.
Pediatr Pulmonol
; 55(11): 3162-3167, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32889788