Detalhe da pesquisa
1.
Novel GATOR1 variants in focal epilepsy.
Epilepsy Behav;
141: 109139, 2023 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36848747
2.
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.
Bioinformatics;
35(13): 2315-2317, 2019 07 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30475984
3.
Endometrial cancer gene panels: clinical diagnostic vs research germline DNA testing.
Mod Pathol;
30(8): 1048-1068, 2017 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28452373
4.
Whole-genome sequencing analysis of phenotypic heterogeneity and anticipation in Li-Fraumeni cancer predisposition syndrome.
Proc Natl Acad Sci U S A;
111(43): 15497-501, 2014 Oct 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25313051
5.
Novel variants in established epilepsy genes in focal epilepsy.
Seizure;
110: 146-152, 2023 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37390664
6.
Molecular Classification and Interpretation of Amyotrophic Lateral Sclerosis Using Deep Convolution Neural Networks and Shapley Values.
Genes (Basel);
12(11)2021 10 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34828360
7.
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Cancers (Basel);
13(8)2021 04 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33917078
8.
The Association of CYP19A1 Variation with Circulating Estradiol and Aromatase Inhibitor Outcome: Can CYP19A1 Variants Be Used to Predict Treatment Efficacy?
Front Pharmacol;
8: 218, 2017.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28487654