Detalhe da pesquisa
1.
Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.
Clin Genet
; 99(1): 29-41, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32506467
2.
Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.
J Neurol Neurosurg Psychiatry
; 94(5): 405-408, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36737246
3.
Identifying Genetic Etiology in Patients with Intellectual Disability: An Experience in Public Health Services in Northeastern Brazil.
J Pediatr Genet
; 13(2): 90-98, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38721574
4.
Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.
Eur J Med Res
; 21(1): 33, 2016 Aug 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-27558267
5.
Perthes-Like Disease Masquerading Non-Classical MPS
J. inborn errors metab. screen
; 8: e20200003, 2020. tab, graf
Artigo
em Inglês
|
LILACS-Express
| ID: biblio-1135001