Detalhe da pesquisa
1.
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome.
J Med Genet
; 61(3): 232-238, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37813462
2.
A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study.
Lancet Oncol
; 22(11): 1618-1631, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34678156
3.
Classical-like Ehlers-Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility.
Genet Med
; 22(10): 1576-1582, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32572181
4.
An exemplary model of genetic counselling for highly specialised services.
J Community Genet
; 14(2): 115-119, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36892793