Detalhe da pesquisa
1.
Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients.
Am J Med Genet C Semin Med Genet
; 187(3): 364-372, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34269512
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.
Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III.
Skeletal Radiol
; 48(8): 1201-1207, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30712120
5.
Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with epidermolysis bullosa.
An Bras Dermatol
; 99(3): 350-356, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38368142
6.
Epidemiological Assessment of a Pediatric Palliative Care Clinic at a Brazilian Quaternary Hospital: 20 Years of Experience.
J Palliat Med
; 27(4): 503-507, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38387013
7.
Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II.
Clinics (Sao Paulo)
; 77: 100082, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35882106
8.
Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II
Clinics
; 77: 100082, 2022. tab, graf
Artigo
em Inglês
|
LILACS-Express
| ID: biblio-1404298