Detalhe da pesquisa
1.
Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis.
Front Genet
; 15: 1278198, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38566815
2.
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.
Eur J Hum Genet
; 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38177409