Detalhe da pesquisa
1.
A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy.
PLoS Genet
; 16(9): e1009000, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32925938
2.
A novel role for nucleolin in splice site selection.
RNA Biol
; 19(1): 333-352, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35220879
3.
Mutation in CATIP (C2orf62) causes oligoteratoasthenozoospermia by affecting actin dynamics.
J Med Genet
; 2020 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32503832
4.
Mutation in TDRD9 causes non-obstructive azoospermia in infertile men.
J Med Genet
; 54(9): 633-639, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28536242
5.
Crosstalk between Long Non-Coding RNA and Spliceosomal microRNA as a Novel Biomarker for Cancer.
Noncoding RNA
; 9(4)2023 Jul 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37624034
6.
A Quality Control Mechanism of Splice Site Selection Abrogated under Stress and in Cancer.
Cancers (Basel)
; 14(7)2022 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35406522
7.
Pathogenic variations in Germ Cell Nuclear Acidic Peptidase (GCNA) are associated with human male infertility.
Eur J Hum Genet
; 29(12): 1781-1788, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34413498
8.
Novel mutation in USP26 associated with azoospermia in a Sertoli cell-only syndrome patient.
Mol Genet Genomic Med
; 8(7): e1258, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32410375
9.
Combined adrenal failure and testicular adrenal rest tumor in a patient with nicotinamide nucleotide transhydrogenase deficiency.
J Pediatr Endocrinol Metab
; 28(9-10): 1187-90, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25879317
10.
Congenital thrombotic thrombocytopenic purpura in a large cohort of patients carrying a novel mutation in ADAMTS13 gene.
Thromb Res
; 185: 167-170, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31837614