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Higher Prevalence of Myocilin Mutations in Advanced Glaucoma in Comparison with Less Advanced Disease in an Australasian Disease Registry

Ophthalmology (Rochester, Minn.), 2013-06, Vol.120 (6), p.1135-1143

2013

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Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing

NPJ breast cancer, 2021-12, Vol.7 (1), p.153-153, Article 153

2021

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Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1

Mutation research, 2009-01, Vol.660 (1), p.1-11

2009

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Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket : a multi-modal approach

European journal of human genetics : EJHG, 2008-07, Vol.16 (7), p.820-832

2008

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Evaluating DNA sequence variants of unknown biological significance

Methods in molecular medicine, 2008, Vol.141, p.199

2008

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Identification of two novel transcobalamin 2 variants associated with developmental delay and megaloblastic anaemia in infancy

Pathology, 2022-12, Vol.54 (7), p.958-959

2022

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Targeting and Internalization of Liposomes by Bladder Tumor Cells Using a Fibronectin Attachment Protein-Derived Peptide–Lipopolymer Conjugate

Bioconjugate chemistry, 2017-05, Vol.28 (5), p.1481-1490

2017

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Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer

Familial cancer, 2006-11, Vol.5 (4), p.397-404

2006

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Abstract PS7-04: Population-based estimates of breast cancer risk for germline pathogenic variants identified by gene-panel testing: An Australian perspective

Cancer research (Chicago, Ill.), 2021-02, Vol.81 (4_Supplement), p.PS7-04-PS7-04

2021

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AB117. Rearranging workflow to improve turn-around time for genetic testing: doing more with less

Annals of translational medicine, 2017-09, Vol.5 (S2), p.AB117-AB117

2017

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Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis

Cancer research (Chicago, Ill.), 2007-02, Vol.67 (4), p.1494-1501

2007

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Functional characterization of human MutY homolog (hMYH) missense mutation (R231L) that is linked with hMYH-associated polyposis

Cancer letters, 2007-05, Vol.250 (1), p.74-81

2007

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OR34-6 A Novel Mechanism of SDH-Deficient Tumorigenesis and Implications for Genetic Testing in Patients with Pheochromocytoma-Paraganglioma

Journal of the Endocrine Society, 2019-04, Vol.3 (Supplement_1)

2019

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Molecular nature of in vivo mutations in human cells at the autosomal HLA-A locus

Cancer research (Chicago, Ill.), 1990-08, Vol.50 (15), p.4584-4587

1990

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Platelet-mediated modulation of adaptive immunity : unique delivery of CD154 signal by platelet-derived membrane vesicles. Commentary

Blood, 2008, Vol.111 (10)

2008

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Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling

Genes chromosomes & cancer, 2006-12, Vol.45 (12), p.1169-1181

2006

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Mitochondrial Mutations as Molecular Markers for Minimal Reidual Disease (MRD) in Acute Myeloid Leukemia

Blood, 2004-11, Vol.104 (11), p.2996-2996

2004

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The Effect of Cycle Number and Target Size on Polymerase Chain Reaction Amplification of Polymorphic Repetitive Sequences

Analytical biochemistry, 2000-05, Vol.280 (2), p.324-326

2000

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Mutations in Human Lymphocytes Commonly Involve Gene Duplication and Resemble Those Seen in Cancer Cells

Proceedings of the National Academy of Sciences - PNAS, 1988-05, Vol.85 (9), p.3189-3192

1988

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Using Mitotic Recombinant Mutant Clonal Lymphocytes for Physical Mapping of Polymorphic Loci on the Short Arm of Human Chromosome 6

Genomics (San Diego, Calif.), 1993-09, Vol.17 (3), p.582-586

1993

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Classification of mutations at the HLA-A locus by use of the polymerase chain reaction

Environmental and molecular mutagenesis, 1993, Vol.22 (3), p.152-156

1993

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Myocarditis Associated with mRNA COVID-19 Vaccination

Radiology, 2021-11, Vol.301 (2), p.E409-E411

2021

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Evaluation for Myocarditis in Competitive Student Athletes Recovering From Coronavirus Disease 2019 With Cardiac Magnetic Resonance Imaging

JAMA cardiology, 2021-08, Vol.6 (8), p.945

2021

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Adenoid cystic carcinoma of the head and neck

Cancer, 2012-09, Vol.118 (18), p.4444-4451

2012

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MRA as the Preferred Test for Pulmonary Embolism During the Iodinated Contrast Media Shortage of 2022: A Single-Center Experience

American journal of roentgenology (1976), 2023-12, Vol.221 (6), p.736-746

2023

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Higher Prevalence of Myocilin Mutations in Advanced Glaucoma in Comparison with Less Advanced Disease in an Australasian Disease Registry

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing

Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1

Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket : a multi-modal approach

Evaluating DNA sequence variants of unknown biological significance

Identification of two novel transcobalamin 2 variants associated with developmental delay and megaloblastic anaemia in infancy

Targeting and Internalization of Liposomes by Bladder Tumor Cells Using a Fibronectin Attachment Protein-Derived Peptide–Lipopolymer Conjugate

Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer

Abstract PS7-04: Population-based estimates of breast cancer risk for germline pathogenic variants identified by gene-panel testing: An Australian perspective

AB117. Rearranging workflow to improve turn-around time for genetic testing: doing more with less

Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis

Functional characterization of human MutY homolog (hMYH) missense mutation (R231L) that is linked with hMYH-associated polyposis

OR34-6 A Novel Mechanism of SDH-Deficient Tumorigenesis and Implications for Genetic Testing in Patients with Pheochromocytoma-Paraganglioma

Molecular nature of in vivo mutations in human cells at the autosomal HLA-A locus

Platelet-mediated modulation of adaptive immunity : unique delivery of CD154 signal by platelet-derived membrane vesicles. Commentary

Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling

Mitochondrial Mutations as Molecular Markers for Minimal Reidual Disease (MRD) in Acute Myeloid Leukemia

The Effect of Cycle Number and Target Size on Polymerase Chain Reaction Amplification of Polymorphic Repetitive Sequences

Mutations in Human Lymphocytes Commonly Involve Gene Duplication and Resemble Those Seen in Cancer Cells

Using Mitotic Recombinant Mutant Clonal Lymphocytes for Physical Mapping of Polymorphic Loci on the Short Arm of Human Chromosome 6

Classification of mutations at the HLA-A locus by use of the polymerase chain reaction

Myocarditis Associated with mRNA COVID-19 Vaccination

Evaluation for Myocarditis in Competitive Student Athletes Recovering From Coronavirus Disease 2019 With Cardiac Magnetic Resonance Imaging

Adenoid cystic carcinoma of the head and neck

MRA as the Preferred Test for Pulmonary Embolism During the Iodinated Contrast Media Shortage of 2022: A Single-Center Experience

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