Detalhe da pesquisa
1.
The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome.
Hum Mutat
; 41(10): 1738-1744, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32643838
2.
Brain Network Analysis of EEG Recordings Can Be Used to Assess Cognitive Function in Teenagers With 15q13.3 Microdeletion Syndrome.
Front Neurosci
; 15: 622329, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33584189
3.
Inactivating histone deacetylase HDA promotes longevity by mobilizing trehalose metabolism.
Nat Commun
; 12(1): 1981, 2021 03 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33790287
4.
mTOR and autophagy pathways are dysregulated in murine and human models of Schaaf-Yang syndrome.
Sci Rep
; 9(1): 15935, 2019 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31685878
5.
Assessment of Cognitive Outcome Measures in Teenagers with 15q13.3 Microdeletion Syndrome.
J Autism Dev Disord
; 46(4): 1455-63, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26754479