Detalhe da pesquisa
1.
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
2.
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
3.
Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects.
Genes (Basel)
; 9(9)2018 Sep 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30208644
4.
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
5.
Spastic ataxia with eye-of-the-tiger-like sign in 4 siblings due to novel compound heterozygous AFG3L2 mutation.
Parkinsonism Relat Disord
; 73: 52-54, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32248051
6.
Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings.
Mov Disord Clin Pract
; 6(3): 259-262, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30949559
7.
Acephaly: further evidence for disruption but not for amniotic bands.
Pediatr Dev Pathol
; 15(4): 333-8, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22668205