Detalhe da pesquisa
1.
Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.
J Med Genet
; 56(9): 629-638, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31129566
2.
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.
Genet Med
; 20(12): 1564-1574, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29595814
3.
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.
Eur J Hum Genet
; 30(10): 1121-1131, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35970915
4.
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.
J Med Genet
; 44(6): 368-72, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17259292