Detalhe da pesquisa
1.
Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China.
Clin Genet;
101(1): 101-109, 2022 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34671977
2.
Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1.
Mol Genet Genomic Med;
8(1): e1023, 2020 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31774634