Detalhe da pesquisa
1.
YWHAZ variation causes intellectual disability and global developmental delay with brain malformation.
Hum Mol Genet
; 32(3): 462-472, 2023 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36001342
2.
Increased expression of NLRP3 associated with elevated levels of HMGB1 in children with febrile seizures: a case-control study.
BMC Pediatr
; 24(1): 44, 2024 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38218765
3.
Meta-Analysis on Associations of RGS1 and IL12A Polymorphisms with Celiac Disease Risk.
Int J Mol Sci
; 17(4): 457, 2016 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-27043536
4.
SZT2 variants associated with partial epilepsy or epileptic encephalopathy and the genotype-phenotype correlation.
Front Mol Neurosci
; 16: 1162408, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37213690
5.
Recessive LAMA5 Variants Associated With Partial Epilepsy and Spasms in Infancy.
Front Mol Neurosci
; 15: 825390, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35663266
6.
YWHAG Mutations Cause Childhood Myoclonic Epilepsy and Febrile Seizures: Molecular Sub-regional Effect and Mechanism.
Front Genet
; 12: 632466, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33767733
7.
Nitrogen Permease Regulator Like-2 (NPRL2 ) truncating mutation causes Ohtahara syndrome with incomplete penetrance: expanding the genotype-phenotype correlations.
Clin Dysmorphol
; 31(4): 181-184, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35731010
8.
Association of LPP and TAGAP Polymorphisms with Celiac Disease Risk: A Meta-Analysis.
Int J Environ Res Public Health
; 14(2)2017 02 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28208589