Detalhe da pesquisa
1.
JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study.
J Clin Immunol
; 43(6): 1436-1447, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37171742
2.
[Triose phosphate isomerase deficiency: a rare erythrocyte enzymopathy with a poor prognosis]. / Le déficit en triose phosphate isomérase : une enzymopathie érythrocytaire rare et de pronostic sombre.
Ann Biol Clin (Paris)
; 81(2)2023 03 15.
Artigo
em Francês
| MEDLINE | ID: mdl-36866814
3.
MAST1-related mega-corpus-callosum syndrome with central hypogonadism.
Eur J Med Genet
; 66(11): 104853, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37758169