Detalhe da pesquisa
1.
Customized de novo mutation detection for any variant calling pipeline: SynthDNM.
Bioinformatics
; 37(20): 3640-3641, 2021 Oct 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33821956
2.
Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome.
PLoS Comput Biol
; 15(6): e1007112, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31199787
3.
Risk factors associated with age at onset of Parkinson's disease in the UK Biobank.
NPJ Parkinsons Dis
; 10(1): 3, 2024 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38167894
4.
Curcumin-primed olfactory mucosa-derived mesenchymal stem cells mitigate cerebral ischemia/reperfusion injury-induced neuronal PANoptosis by modulating microglial polarization.
Phytomedicine
; 129: 155635, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38701541
5.
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
EBioMedicine
; 99: 104928, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38113761
6.
A comprehensive perspective of Huntington's disease and mitochondrial dysfunction.
Mitochondrion
; 70: 8-19, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36906250
7.
De novo variants in MAST4 related to neurodevelopmental disorders with developmental delay and infantile spasms: Genotype-phenotype association.
Front Mol Neurosci
; 16: 1097553, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36910266
8.
A novel variation of SERPINC1 caused deep venous thrombosis in a Chinese family: A case report.
Medicine (Baltimore)
; 98(1): e13999, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30608445
9.
Identification of a VHL gene mutation in a Chinese family with Von HippelLindau syndrome.
Mol Med Rep
; 18(1): 435-440, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29749453