Detalhe da pesquisa
1.
A case of G1013R FBN1 mutation: A potential genotype-phenotype correlation in severe Marfan syndrome.
Am J Med Genet A
; 182(6): 1329-1335, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32198975
2.
Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs.
Lancet Reg Health West Pac
; 1: 100001, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34327338