Detalhe da pesquisa
1.
Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia.
J Med Genet
; 60(5): 498-504, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36241386
2.
Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency.
Mol Genet Metab
; 130(3): 179-182, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32414565