Detalhe da pesquisa
1.
DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling.
Am J Hum Genet
; 96(1): 81-92, 2015 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25557784
2.
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.
Hum Mutat
; 35(10): 1221-32, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25044882
3.
Direct prediction of Homologous Recombination Deficiency from routine histology in ten different tumor types with attention-based Multiple Instance Learning: a development and validation study.
medRxiv
; 2023 Mar 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36945540