Detalhe da pesquisa
1.
Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads.
Am J Hum Genet
; 111(4): 701-713, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531366
2.
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
Hum Mol Genet
; 25(20): 4546-4555, 2016 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28173158
3.
Damage assessment in structures using artificial neural network working and a hybrid stochastic optimization.
Sci Rep
; 12(1): 4958, 2022 03 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35322158
4.
Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions.
Ophthalmic Genet
; 39(1): 80-86, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29087248