Detalhe da pesquisa
1.
A proteome-scale map of the human interactome network.
Cell
; 159(5): 1212-1226, 2014 11 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-25416956
2.
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 109(4): 587-600, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35196516
3.
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Genet Med
; 24(12): 2464-2474, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36214804
4.
Hidden intra-mandibular carcinoma cuniculatum appearing in a patient with metastatic prostate cancer: a case report.
BMC Oral Health
; 19(1): 54, 2019 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30953484
5.
Comparison of the ABC and ACMG systems for variant classification.
Eur J Hum Genet
; 2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38778080
6.
Predictive Clinical and Biological Criteria for Gene Panel Positivity in Suspected Inherited Autoinflammatory Diseases: Insights from a Case-Control Study.
Genes (Basel)
; 14(10)2023 10 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37895288
7.
Rapid genetic and phenotypic changes in Pseudomonas aeruginosa clinical strains during ventilator-associated pneumonia.
Sci Rep
; 9(1): 4720, 2019 03 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30886315
8.
Author Correction: Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
Nat Commun
; 14(1): 569, 2023 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36732511
9.
Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
Nat Commun
; 5: 3650, 2014 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-24722188