Detalhe da pesquisa
1.
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Genet Med
; 25(11): 100938, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37454282
2.
Molecular diagnosis of epileptic encephalopathy of the first year of life applying a customized gene panel in a group of Argentinean patients.
Epilepsy Behav
; 111: 107322, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32702657
3.
Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients.
Mol Genet Metab Rep
; 27: 100733, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33717984
4.
Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina.
Eur J Paediatr Neurol
; 20(6): 910-917, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27510309
5.
Pharmacogenetic studies in children with acute lymphoblastic leukemia in Argentina.
Leuk Lymphoma
; 56(5): 1370-8, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25110820
6.
Farmacogenomica: camino hacia una medicina personalizada / Pharmacogenomics: the way to personalized care
Med. infant
; 19(2,n.esp): 153-162, jun. 2012. tab, graf
Artigo
em Espanhol
| LILACS | ID: lil-774301