Detalhe da pesquisa
1.
An update on genetic variants of the NKX2-5.
Hum Mutat
; 41(7): 1187-1208, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32369864
2.
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
3.
Double Autosomal/Gonosomal Mosaic Trisomy 47,XXX/47,XX,+14 in a Newborn with Multiple Congenital Anomalies.
Cytogenet Genome Res
; 159(3): 137-142, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31786569
4.
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
5.
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
6.
Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects.
Genes (Basel)
; 9(9)2018 Sep 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30208644
7.
Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency.
Genes (Basel)
; 8(8)2017 Aug 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-28812997
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.
Análisis de anomalías cromosómicas, desbalances genómicos y variantes de secuencia como causa de cardiopatías congénitas / Analysis of chromosomal abnormalities, genomic imbalances, and sequence variants as cause of congenital heart defects
Rev. argent. salud publica
; 13: 1-8, 5/02/2021.
Artigo
em Espanhol
| LILACS, ARGMSAL, BINACIS | ID: biblio-1147271
10.
A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome.
Clin Dysmorphol
; 29(1): 42-45, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30921092