Detalhe da pesquisa
1.
Post-mortem cytogenomic investigations in patients with congenital malformations.
Exp Mol Pathol
; 101(1): 116-23, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27450648
2.
Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome.
Mol Genet Genomics
; 289(6): 1037-43, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24985706
3.
Influence of blood phenylalanine level variations on the development of executive functions and social cognition in children with phenylketonuria.
J Pediatr (Rio J)
; 99(5): 507-513, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37178714
4.
CEDNIK syndrome in a Brazilian patient with compound heterozygous pathogenic variants.
Eur J Med Genet
; 65(3): 104440, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35093605
5.
Influence of blood phenylalanine level variations on the development of executive functions and social cognition in children with phenylketonuria
J. pediatr. (Rio J.)
; 99(5): 507-513, 2023. tab
Artigo
em Inglês
|
LILACS-Express
| ID: biblio-1514443
6.
Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience.
Clinics (Sao Paulo)
; 72(9): 526-537, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29069255
7.
Electrical storm treated successfully in a patient with TANGO2 gene mutation and long QT syndrome: A case report.
HeartRhythm Case Rep
; 6(5): 256-260, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32461889
8.
Biochemical profile in an infant with neonatal hemochromatosis shows evidence of impairment of mitochondrial long-chain fatty acid oxidation.
Clin Mol Hepatol
; 25(1): 86-91, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30149691
9.
Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype.
Gene
; 496(1): 59-62, 2012 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22285927
10.
Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience
Clinics
; 72(9): 526-537, Sept. 2017. tab, graf
Artigo
em Inglês
| LILACS | ID: biblio-890734
11.
Investigação clínica e citogenética molecular em pacientes com atraso de desenvolvimento neuropsicomotor associado à malformação congênita / Clinical and molecular cytogenetics investigation in patients with psychomotor delay associated with congenital malformation
São Paulo; s.n; 2015. [101] p. ilus, tab, graf.
Tese
em Português
| LILACS | ID: biblio-871562