Detalhe da pesquisa
1.
Molecular characterization of Spanish patients with MECP2 duplication syndrome.
Clin Genet
; 97(4): 610-620, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32043567
2.
Enquiring beneath the surface: can a gene expression assay shed light into the heterogeneity among newborns with neonatal encephalopathy?
Pediatr Res
; 88(3): 451-458, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31952072
3.
Comprehensive Analysis of GABAA-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease.
Int J Mol Sci
; 21(2)2020 01 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31947619
4.
Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy.
Biomedicines
; 9(2)2021 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33546327
5.
Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism.
Sci Rep
; 9(1): 9128, 2019 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31235756