Detalhe da pesquisa
1.
SALL1 enforces microglia-specific DNA binding and function of SMADs to establish microglia identity.
Nat Immunol;
24(7): 1188-1199, 2023 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37322178
2.
An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain.
Ann Neurol;
92(1): 138-153, 2022 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35340043
3.
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
Epilepsia;
62(1): e13-e21, 2021 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33280099
4.
Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.
Am J Med Genet A;
167A(5): 931-73, 2015 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25790323
5.
Deciphering microglia phenotypes in health and disease.
Curr Opin Genet Dev;
84: 102146, 2024 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38171044
6.
Novel pathogenic variants and genes for myopathies identified by whole exome sequencing.
Mol Genet Genomic Med;
3(4): 283-301, 2015 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26247046