Detalhe da pesquisa
1.
Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.
Hum Mol Genet
; 30(17): 1591-1606, 2021 08 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34046667
2.
Batch alignment via retention orders for preprocessing large-scale multi-batch LC-MS experiments.
Bioinformatics
; 38(15): 3759-3767, 2022 08 02.
Artigo
Inglês
| MEDLINE | ID: mdl-35748696
3.
Semantic clustering analysis of E3-ubiquitin ligases in gastrointestinal tract defines genes ontology clusters with tissue expression patterns.
BMC Gastroenterol
; 22(1): 186, 2022 Apr 12.
Artigo
Inglês
| MEDLINE | ID: mdl-35413796
4.
The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis.
Exp Eye Res
; 182: 160-166, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30851240
5.
Semantic biclustering for finding local, interpretable and predictive expression patterns.
BMC Genomics
; 18(Suppl 7): 752, 2017 10 16.
Artigo
Inglês
| MEDLINE | ID: mdl-29513193
6.
Posterior corneal vesicles are not associated with the genetic variants that cause posterior polymorphous corneal dystrophy.
Acta Ophthalmol
; 100(7): e1426-e1430, 2022 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-35174971
7.
Finding semantic patterns in omics data using concept rule learning with an ontology-based refinement operator.
BioData Min
; 13: 13, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32905086
8.
Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub
; 164(2): 183-188, 2020 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-31025659
9.
Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant.
J Ophthalmol
; 2020: 6807809, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32454992