Detalhe da pesquisa
1.
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date.
Am J Med Genet A
; : e63646, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38702915
2.
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.
Hum Mutat
; 40(11): 1924-1938, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31283065
3.
Machine learning enables detection of early-stage colorectal cancer by whole-genome sequencing of plasma cell-free DNA.
BMC Cancer
; 19(1): 832, 2019 Aug 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31443703
4.
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.
Hum Mutat
; 39(12): 1788-1802, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30118150