Detalhe da pesquisa
1.
Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families.
Clin Genet
; 100(2): 168-175, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33866545
2.
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.
Adv Exp Med Biol
; 1031: 55-94, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29214566
3.
Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.
Am J Hum Genet
; 93(2): 384-9, 2013 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23910460
4.
A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.
Am J Med Genet A
; 167(7): 1659-67, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25851998
5.
Carrier screening "within the panel".
Genet Med
; 21(5): 1257, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30327542
6.
Somatic-gonadal mosaicism causing Sotos syndrome.
Am J Med Genet A
; 170(12): 3360-3362, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27604501
7.
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.
Ann Clin Transl Neurol
; 7(3): 353-362, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32153140
8.
Pharmacogenomics in general practice: The time has come.
Aust J Gen Pract
; 48(3): 100-105, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31256470
9.
Detection of copy number variations in melanocytic lesions utilising array based comparative genomic hybridisation.
Pathology
; 49(3): 285-291, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28274670
10.
Genotype and phenotype spectrum of NRAS germline variants.
Eur J Hum Genet
; 25(7): 823-831, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28594414
11.
Initiating an undiagnosed diseases program in the Western Australian public health system.
Orphanet J Rare Dis
; 12(1): 83, 2017 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28468665
12.
The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.
Orphanet J Rare Dis
; 11(1): 77, 2016 06 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27287197
13.
Surgical management of lung cancer in Western Australia in 1996 and its outcomes.
ANZ J Surg
; 74(12): 1076-81, 2004 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-15574152
14.
Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings.
Neuromuscul Disord
; 20(5): 330-4, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20335036
15.
Do aggregates of multiple questions better capture overall fish consumption than summary questions?
Public Health Nutr
; 11(2): 196-202, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17610758
16.
An inverse association between preserved fish and prostate cancer: results from a population-based case-control study in Canada.
Nutr Cancer
; 60(2): 222-6, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18444154