Detalhe da pesquisa
1.
Novel CAD gene mutations in a boy with developmental and epileptic encephalopathy 50 with dramatic response to uridine therapy: a case report and a review of the literature.
BMC Pediatr;
24(1): 160, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38454370
2.
Genotype-phenotype correlations in SCN8A-related epilepsy: a cohort study of Chinese children in southern China.
Brain;
145(4): e24-e27, 2022 05 24.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35230384
3.
Whole-exome sequencing analysis identifies novel variants associated with Kawasaki disease susceptibility.
Pediatr Rheumatol Online J;
21(1): 78, 2023 Aug 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37550746
4.
Novel compound heterozygous mutations in the AFG3L2 gene in a Chinese child with microcephaly, early-onset seizures, and cerebral atrophy.
Heliyon;
9(4): e14766, 2023 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37025825
5.
Spinal canal decompression for hypertrophic neuropathy of the cauda equina with chronic inflammatory demyelinating polyradiculoneuropathy: A case report.
World J Clin Cases;
10(13): 4294-4300, 2022 May 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35665127
6.
A novel TUBG1 mutation with neurodevelopmental disorder caused by malformations of cortical development.
Biomed Res Int;
2021: 6644274, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33728335