Detalhe da pesquisa
1.
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease.
Genet Med
; 21(5): 1121-1130, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30293986
2.
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.
Brain Commun
; 5(5): fcad222, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37794925
3.
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Orphanet J Rare Dis
; 16(1): 412, 2021 10 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34627339
4.
Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico.
NPJ Genom Med
; 4: 5, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30792901
5.
Correction to: Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Orphanet J Rare Dis
; 17(1): 59, 2022 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35177119