Detalhe da pesquisa
1.
The AnnotSV webserver in 2023: updated visualization and ranking.
Nucleic Acids Res
; 51(W1): W39-W45, 2023 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37216590
2.
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
Am J Hum Genet
; 105(3): 509-525, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31422817
3.
FAM111A mutations result in hypoparathyroidism and impaired skeletal development.
Am J Hum Genet
; 92(6): 990-5, 2013 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-23684011
4.
Predicting missing expression values in gene regulatory networks using a discrete logic modeling optimization guided by network stable states.
Nucleic Acids Res
; 41(1): e8, 2013 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-22941654
5.
MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.
Am J Med Genet A
; 164A(5): 1175-9, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24648384
6.
MIR@NT@N: a framework integrating transcription factors, microRNAs and their targets to identify sub-network motifs in a meta-regulation network model.
BMC Bioinformatics
; 12: 67, 2011 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-21375730
7.
Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement.
Methods Mol Biol
; 1922: 407-452, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30838594
8.
AMYPdb: a database dedicated to amyloid precursor proteins.
BMC Bioinformatics
; 9: 273, 2008 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-18544157
9.
TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT.
EMBO Mol Med
; 8(12): 1390-1408, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27861123
10.
Regulation of epithelial plasticity by miR-424 and miR-200 in a new prostate cancer metastasis model.
Sci Rep
; 3: 3151, 2013 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24193225
11.
A novel network integrating a miRNA-203/SNAI1 feedback loop which regulates epithelial to mesenchymal transition.
PLoS One
; 7(4): e35440, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22514743
12.
M@IA: a modular open-source application for microarray workflow and integrative datamining.
In Silico Biol
; 8(1): 63-9, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18430991
13.
Upregulation of the tumor suppressor gene menin in hepatocellular carcinomas and its significance in fibrogenesis.
Hepatology
; 44(5): 1296-307, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17058241