Detalhe da pesquisa
1.
Conformational stability, dynamics and function of human frataxin: Tryptophan side chain interplay.
Arch Biochem Biophys
; 715: 109086, 2022 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34801473
2.
Expression and characterisation of Fmr1 splice variants during folliculogenesis in the rat.
Reprod Fertil Dev
; 34(16): 1034-1042, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36116785
3.
An update on genetic variants of the NKX2-5.
Hum Mutat
; 41(7): 1187-1208, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32369864
4.
Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency.
Clin Endocrinol (Oxf)
; 93(1): 19-27, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32289882
5.
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
Hum Mutat
; 39(1): 5-22, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29035424
6.
Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease.
Genes (Basel)
; 13(7)2022 06 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35885957
7.
Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects.
Genes (Basel)
; 9(9)2018 Sep 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30208644
8.
Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations.
Sci Rep
; 6: 39082, 2016 12 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-27966633
9.
Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency.
Endocrine
; 50(1): 72-8, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26184415