Detalhe da pesquisa
1.
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy.
Am J Med Genet A
; 188(2): 522-533, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34713950
2.
DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings.
Mol Genet Metab Rep
; 37: 101008, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38053929