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Diet-Related Disease Prevention in a Rural Australian Setting: Understanding Barriers, Enablers, and the Role of Rural Health Services in Supporting Changes in Local Rural Food Environments.
- Published in:
- Nutrients, 2023, v. 15, n. 23, p. 4979, doi. 10.3390/nu15234979
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- Publication type:
- Article
Clinical and imaging modality factors impacting radiological interpretation of breast screening in young women with neurofibromatosis type 1.
- Published in:
- Familial Cancer, 2023, v. 22, n. 4, p. 499, doi. 10.1007/s10689-023-00340-5
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- Publication type:
- Article
Palaeoenvironmental history of the Middle Pleistocene deposits at Gilson, Warwickshire, England: part of the High Speed Two railway route alignment.
- Published in:
- Journal of Quaternary Science, 2023, v. 38, n. 7, p. 1128, doi. 10.1002/jqs.3537
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- Publication type:
- Article
GStatSim V1.0: a Python package for geostatistical interpolation and conditional simulation.
- Published in:
- Geoscientific Model Development, 2023, v. 16, n. 13, p. 3765, doi. 10.5194/gmd-16-3765-2023
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- Publication type:
- Article
The Community, the Workplace, and Public Health Measures: A Qualitative Study of Factors that Impacted the Wellbeing of Rural Health Service Staff in Victoria, Australia, during the COVID-19 Pandemic.
- Published in:
- Health & Social Care in the Community, 2023, p. 1, doi. 10.1155/2023/5556980
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- Publication type:
- Article
Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling of colorectal cancers.
- Published in:
- Clinical Epigenetics, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13148-023-01511-y
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- Publication type:
- Article
Further delineation of dosage‐sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 6, p. 681, doi. 10.1111/cge.14303
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- Publication type:
- Article
Readmission after atrial fibrillation ablation—Can we prevent the "bounce back"?
- Published in:
- 2023
- By:
- Publication type:
- Editorial
Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 357, doi. 10.1002/ajmg.a.63027
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- Publication type:
- Article
Epicardial mapping and ablation of ventricular tachycardia from the coronary venous system in post-coronary bypass patients.
- Published in:
- Journal of Interventional Cardiac Electrophysiology, 2023, v. 66, n. 1, p. 145, doi. 10.1007/s10840-022-01250-9
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- Publication type:
- Article
Rural health service leaders co‐design state‐wide research addressing an emerging health issue: A case report.
- Published in:
- Australian Journal of Rural Health, 2022, v. 30, n. 6, p. 884, doi. 10.1111/ajr.12915
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- Publication type:
- Article
Examining a rural Victorian community's knowledge and help seeking behaviour for family violence and the role of the local public health service.
- Published in:
- Australian Journal of Rural Health, 2022, v. 30, n. 5, p. 631, doi. 10.1111/ajr.12887
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- Publication type:
- Article
Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2.
- Published in:
- Movement Disorders Clinical Practice, 2022, v. 9, p. S32, doi. 10.1002/mdc3.13538
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- Publication type:
- Article
Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2.
- Published in:
- Movement Disorders Clinical Practice, 2022, v. 9, p. S32, doi. 10.1002/mdc3.13538
- By:
- Publication type:
- Article
Clinical Phenotypes and Outcomes in Monogenic Versus Non-monogenic Very Early Onset Inflammatory Bowel Disease.
- Published in:
- Journal of Crohn's & Colitis, 2022, v. 16, n. 9, p. 1380, doi. 10.1093/ecco-jcc/jjac045
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- Publication type:
- Article
Addressing the lack of research in rural communities through building rural health service research: Establishment of a research unit in Colac, a medium rural town.
- Published in:
- Australian Journal of Rural Health, 2022, v. 30, n. 4, p. 536, doi. 10.1111/ajr.12860
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- Publication type:
- Article
Diagnostic accuracy and performance of artificial intelligence in measuring left atrial volumes and function on multiphasic CT in patients with atrial fibrillation.
- Published in:
- European Radiology, 2022, v. 32, n. 8, p. 5256, doi. 10.1007/s00330-022-08657-y
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- Publication type:
- Article
MEN4, the MEN1 Mimicker: A Case Series of Three Phenotypically Heterogenous Patients With Unique CDKN1B Mutations.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 8, p. 2339, doi. 10.1210/clinem/dgac162
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- Publication type:
- Article
Incidence and predictive factors of problems after fixation of trochanteric hip fractures with sliding hip screw or intramedullary devices.
- Published in:
- Hip International, 2022, v. 32, n. 4, p. 543, doi. 10.1177/1120700020959339
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- Publication type:
- Article
Surveillance Improves Outcomes for Carriers of SDHB Pathogenic Variants: A Multicenter Study.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 5, p. e1907, doi. 10.1210/clinem/dgac019
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- Publication type:
- Article
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow.
- Published in:
- JAMA Network Open, 2022, v. 5, n. 1, p. e2141911, doi. 10.1001/jamanetworkopen.2021.41911
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- Publication type:
- Article
Testing the Accuracy of a Bedside Screening Tool Framework to Clinical Records for Identification of Patients at Risk of Malnutrition in a Rural Setting: An Exploratory Study.
- Published in:
- Nutrients, 2022, v. 14, n. 1, p. 205, doi. 10.3390/nu14010205
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- Publication type:
- Article
Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.
- Published in:
- Journal of Crohn's & Colitis, 2021, v. 15, n. 11, p. 1908, doi. 10.1093/ecco-jcc/jjab077
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- Publication type:
- Article
Same‐day discharge after catheter ablation in patients with atrial fibrillation in a large nationwide administrative claims database.
- Published in:
- Journal of Cardiovascular Electrophysiology, 2021, v. 32, n. 9, p. 2432, doi. 10.1111/jce.15193
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- Publication type:
- Article
Electrical delays in quadripolar leads with cardiac resynchronization therapy.
- Published in:
- Journal of Cardiovascular Electrophysiology, 2021, v. 32, n. 9, p. 2498, doi. 10.1111/jce.15156
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- Publication type:
- Article
Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability.
- Published in:
- Human Mutation, 2021, v. 42, n. 7, p. 835, doi. 10.1002/humu.24207
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- Publication type:
- Article
Impact of age on catheter ablation of premature ventricular contractions.
- Published in:
- Journal of Cardiovascular Electrophysiology, 2021, v. 32, n. 4, p. 1077, doi. 10.1111/jce.14976
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- Publication type:
- Article
Healthcare utilization and cost in patients with atrial fibrillation and heart failure undergoing catheter ablation.
- Published in:
- Journal of Cardiovascular Electrophysiology, 2020, v. 31, n. 12, p. 3166, doi. 10.1111/jce.14774
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- Publication type:
- Article
Reading something as flimsy as a novel.
- Published in:
- 2020
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- Publication type:
- Book Review
Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders.
- Published in:
- Translational Psychiatry, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41398-020-01034-7
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- Publication type:
- Article
DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 20, p. 7735, doi. 10.3390/ijms21207735
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- Publication type:
- Article
FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-68465-6
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- Publication type:
- Article
Children's rare disease cohorts: an integrative research and clinical genomics initiative.
- Published in:
- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0137-0
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- Publication type:
- Article
Congenital Hypoparathyroidism Associated With Elevated Circulating Nonfunctional Parathyroid Hormone Due to Novel PTH Mutation.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Electromagnetic interference from left ventricular assist devices in patients with subcutaneous implantable cardioverter‐defibrillators.
- Published in:
- Journal of Cardiovascular Electrophysiology, 2020, v. 31, n. 5, p. 1195, doi. 10.1111/jce.14431
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- Publication type:
- Article
Pragmatic Study of Clinician Use of a Personalized Patient Decision Aid Integrated into the Electronic Health Record: An 8-Year Experience.
- Published in:
- Telemedicine & e-Health, 2020, v. 26, n. 5, p. 597, doi. 10.1089/tmj.2019.0112
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- Publication type:
- Article
X‐linked intellectual disability: Phenotypic expression in carrier females.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 3, p. 418, doi. 10.1111/cge.13667
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- Publication type:
- Article
IDMOD: An Australian microsimulation model of lifetime economic and social factors in familial intellectual disability.
- Published in:
- International Journal of Microsimulation, 2020, v. 13, n. 1, p. 52, doi. 10.34196/ijm.00212
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- Publication type:
- Article
Real‐world outcomes of ventricular tachycardia catheter ablation with versus without intracardiac echocardiography.
- Published in:
- Journal of Cardiovascular Electrophysiology, 2020, v. 31, n. 2, p. 417, doi. 10.1111/jce.14324
- By:
- Publication type:
- Article
Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome.
- Published in:
- Journal of Neurodevelopmental Disorders, 2019, v. 11, n. 1, p. 1, doi. 10.1186/s11689-019-9288-7
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- Publication type:
- Article
Null variants and deletions in BRWD3 cause an X‐linked syndrome of mild–moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 638, doi. 10.1002/ajmg.c.31750
- By:
- Publication type:
- Article
Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for Fragile X Testing.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-51618-7
- By:
- Publication type:
- Article
Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 16, p. 3907, doi. 10.3390/ijms20163907
- By:
- Publication type:
- Article
Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00578
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- Publication type:
- Article
Feedforward Networks: Adaptation, Feedback, and Synchrony.
- Published in:
- Journal of Nonlinear Science, 2019, v. 29, n. 3, p. 1129, doi. 10.1007/s00332-018-9513-7
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- Publication type:
- Article
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.
- Published in:
- Molecular Autism, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13229-019-0271-7
- By:
- Publication type:
- Article
STAT1 signaling shields T cells from NK cell-mediated cytotoxicity.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-08743-8
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- Publication type:
- Article
recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 4, p. 598, doi. 10.1093/hmg/ddy371
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- Publication type:
- Article
Middle Pleistocene seismically induced clay diapirism in an intraplate zone, western Brittany, France.
- Published in:
- Quaternary Research, 2019, v. 91, n. 1, p. 301, doi. 10.1017/qua.2018.63
- By:
- Publication type:
- Article
Impact of a novel protocol for atrial fibrillation management in outpatient gastrointestinal endoscopic procedures: a retrospective cohort study.
- Published in:
- 2018
- By:
- Publication type:
- journal article