Detalhe da pesquisa
1.
Analysis of the ABCA4 c.[2588G>C;5603A>T] Allele in the Australian Population.
Adv Exp Med Biol
; 1185: 269-273, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31884623
2.
Genetic analysis of choroideremia families in the Australian population.
Clin Exp Ophthalmol
; 43(8): 727-34, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25912515
3.
Establishment and evolution of the Australian Inherited Retinal Disease Register and DNA Bank.
Clin Exp Ophthalmol
; 41(5): 476-83, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23078154
4.
Application of a high-throughput genotyping method for loci exclusion in non-consanguineous Australian pedigrees with autosomal recessive retinitis pigmentosa.
Mol Vis
; 18: 2043-52, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22876132
5.
Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants.
Hum Genome Var
; 7: 35, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33110609
6.
The genetic profile of Leber congenital amaurosis in an Australian cohort.
Mol Genet Genomic Med
; 5(6): 652-667, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29178642
7.
A computer-assisted method for pathogenicity assessment and genetic reporting of variants stored in the Australian Inherited Retinal Disease Register.
Australas Phys Eng Sci Med
; 39(1): 239-45, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26728880