Detalhe da pesquisa
1.
An approach to rapid characterization of DMD copy number variants for prenatal risk assessment.
Am J Med Genet A
; 185(8): 2541-2545, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34018669
2.
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
HGG Adv
; 3(3): 100108, 2022 Jul 14.
Artigo
Inglês
| MEDLINE | ID: mdl-35599849
3.
Adult-onset presentation of a hyperornithinemia-hyperammonemia-homocitrullinuria patient without prior history of neurological complications.
JIMD Rep
; 3: 97-102, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-23430880