Detalhe da pesquisa
1.
CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.
Genet Med
; 24(5): 1096-1107, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35063350
2.
Clinical pathways for inborn errors of metabolism: warranted and feasible.
Orphanet J Rare Dis
; 8: 37, 2013 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-23442887