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1.
Informing a value care model: lessons from an integrated adult neurogenomics clinic.
Intern Med J
; 53(12): 2198-2207, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37092903
2.
Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency.
J Clin Immunol
; 41(8): 1915-1935, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34657246
3.
Tip of the iceberg: are we missing undiagnosed patients with maturity onset diabetes of the young?
Intern Med J
; 52(11): 2011-2012, 2022 11.
Article
in English
| MEDLINE | ID: mdl-36404119
4.
RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome.
Brain
; 143(10): e82, 2020 10 01.
Article
in English
| MEDLINE | ID: mdl-32949124
5.
Everolimus-Induced Remission of Classic Kaposi's Sarcoma Secondary to Cryptic Splicing Mediated CTLA4 Haploinsufficiency.
J Clin Immunol
; 40(5): 774-779, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32562209
6.
Autoinflammation Masquerading as Autoimmunity in an Adult with Heterozygous p.E250K PSTPIP1 Mutation.
J Clin Immunol
; 39(5): 519-522, 2019 07.
Article
in English
| MEDLINE | ID: mdl-31119601
7.
Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing.
Acta Diabetol
; 61(2): 181-188, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-37812285
8.
A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing.
Mol Genet Genomic Med
; 10(5): e1923, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35293157
9.
Investigation of current models of care for genetic heart disease in Australia: A national clinical audit.
Int J Cardiol
; 330: 128-134, 2021 05 01.
Article
in English
| MEDLINE | ID: mdl-33581180
10.
Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an LMNA p.R349W Variant.
J Endocr Soc
; 4(10): bvaa104, 2020 Oct 01.
Article
in English
| MEDLINE | ID: mdl-32939435
11.
Photodynamic therapy with and without adjunctive intravitreal triamcinolone acetonide: a retrospective comparative study.
Ophthalmic Surg Lasers Imaging
; 40(6): 561-9, 2009.
Article
in English
| MEDLINE | ID: mdl-19928721
12.
Circulating inflammatory markers and hemostatic factors in age-related maculopathy: a population-based case-control study.
Invest Ophthalmol Vis Sci
; 48(5): 1983-8, 2007 May.
Article
in English
| MEDLINE | ID: mdl-17460250
13.
Left Atrial Cardiomyopathy with Left Atrial Thrombus despite Sinus Rhythm in a Patient with Severe Ventricular Cardiomyopathy Requiring Cardiac Transplantation.
CASE (Phila)
; 5(4): 243-251, 2021 Aug.
Article
in English
| MEDLINE | ID: mdl-34430776
14.
Alcohol- and light-induced electro-oculographic responses: variability and clinical utility.
Doc Ophthalmol
; 110(2-3): 227-36, 2005.
Article
in English
| MEDLINE | ID: mdl-16328931
15.
Alcohol- and light-induced electro-oculographic responses in age-related macular degeneration & central serous chorioretinopathy. alcohol- and light-induced EOG responses in ARMD & CSC.
Doc Ophthalmol
; 110(2-3): 237-46, 2005.
Article
in English
| MEDLINE | ID: mdl-16328932
16.
Effects of post-mortem delay and storage duration on the expression of GFAP in normal human adult retinae.
Clin Exp Ophthalmol
; 30(3): 200-7, 2002 Jun.
Article
in English
| MEDLINE | ID: mdl-12010215
17.
Angiotensin-converting enzyme inhibitors (ACEIs) and age-related maculopathy (ARM): cross-sectional findings from the Blue Mountains Eye Study.
Acta Ophthalmol Scand
; 82(3 Pt 1): 298-303, 2004 Jun.
Article
in English
| MEDLINE | ID: mdl-15115451
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