Detalhe da pesquisa
1.
Insights from yeast: Transcriptional reprogramming following metformin treatment is similar to that of deferiprone in a yeast Friedreich's ataxia model.
Yeast
; 40(3-4): 143-151, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36755518
2.
Revisiting TOP2B-related phenotypes: Three new cases and literature review.
Clin Genet
; 104(2): 251-258, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37068767
3.
Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families.
BMC Oral Health
; 23(1): 314, 2023 05 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37221585
4.
Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis.
Clin Genet
; 101(2): 221-232, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34750818
5.
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nat Commun
; 15(1): 1758, 2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38413582
6.
Methionine restriction and cancer treatment: a systems biology study of yeast to investigate the possible key players.
Turk J Biol
; 47(3): 208-217, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37529420
7.
A New Family with a Novel OTUD6B Mutation: Practicing Whole Exome Sequencing for Antenatal Diagnosis of Tetralogy of Fallot.
Mol Syndromol
; 13(3): 206-211, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35707595