Detalhe da pesquisa
1.
Tracer metabolomics reveals the role of aldose reductase in glycosylation.
Cell Rep Med
; 4(6): 101056, 2023 06 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37257447
2.
Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature.
Am J Med Genet A
; 155A(9): 2146-53, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21834054
3.
Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis.
JCI Insight
; 6(24)2021 12 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34784297
4.
The novel lncRNA lnc-NR2F1 is pro-neurogenic and mutated in human neurodevelopmental disorders.
Elife
; 82019 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30628890
5.
Neurodevelopmental disorder-associated ZBTB20 gene variants affect dendritic and synaptic structure.
PLoS One
; 13(10): e0203760, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30281617
6.
A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation.
Biology (Basel)
; 7(2)2018 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29794985