Detalhe da pesquisa
1.
Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency.
J Med Genet
; 57(7): 505-508, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31501241
2.
Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin.
Neurol Genet
; 7(2): e578, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33763535