Detalhe da pesquisa
1.
Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 Microdeletion.
J Pediatr
; 252: 56-60.e2, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36067875
2.
Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases.
Genet Mol Biol
; 44(4): 20210061, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34609444
3.
Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases.
Am J Med Genet C Semin Med Genet
; 184(4): 955-964, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33258288
4.
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
5.
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
6.
Clinical features of collagen VI-related dystrophies: A large Brazilian cohort.
Clin Neurol Neurosurg
; 192: 105734, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32065942
7.
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
8.
Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms' tumor: two case reports.
J Med Case Rep
; 7: 284, 2013 Dec 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-24377487
9.
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