Detalhe da pesquisa
1.
Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patients.
Eur J Hum Genet
; 31(8): 925-930, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37188824
2.
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.
J Neuromuscul Dis
; 10(5): 835-846, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37424474
3.
Somatic copy number alteration and fragmentation analysis in circulating tumor DNA for cancer screening and treatment monitoring in colorectal cancer patients.
J Hematol Oncol
; 15(1): 125, 2022 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36056434