Detalhe da pesquisa
1.
Under-ascertainment of breast cancer susceptibility gene carriers in a cohort of New Zealand female breast cancer patients.
Breast Cancer Res Treat
; 185(3): 583-590, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33113089
2.
Novel Presenilin-1 Mutation (Ala275Ser) Associated With Clinical Features of Dementia With Lewy Bodies.
Alzheimer Dis Assoc Disord
; 35(4): 350-352, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33769990
3.
Patterns of referral and uptake of BReast CAncer (BRCA) gene testing of eligible women with ovarian cancer in New Zealand.
N Z Med J
; 132(1490): 26-35, 2019 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-30789886
4.
Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy.
Mol Genet Genomic Med
; 7(1): e00476, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30345660
5.
Meeting the challenges of interpreting variants of unknown clinical significance in BRCA testing.
N Z Med J
; 128(1419): 56-61, 2015 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26365847
6.
Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort.
Hum Mutat
; 19(3): 311, 2002 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-11857755