Detalhe da pesquisa
1.
Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records.
J Med Genet
; 60(7): 669-678, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36572524
2.
The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders.
Ophthalmology
; 126(6): 888-907, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30653986
3.
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
JAMA Netw Open
; 2(10): e1914274, 2019 10 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31664448
4.
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
PLoS One
; 12(7): e0181874, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28750028