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3D facial analysis for rare disease diagnosis and treatment monitoring: Proof-Of-Concept plan for hereditary angioedema.
- Published in:
- PLoS Digital Health, 2023, v. 1, n. 3, p. 1, doi. 10.1371/journal.pdig.0000090
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- Publication type:
- Article
Investigating disparity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander people.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-32707-0
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- Publication type:
- Article
The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems.
- Published in:
- 2021
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- Publication type:
- journal article
A flexible computational pipeline for research analyses of unsolved clinical exome cases.
- Published in:
- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-00161-w
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- Publication type:
- Article
The Melanoma Genomics Managing Your Risk Study randomised controlled trial: statistical analysis plan.
- Published in:
- 2020
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- Publication type:
- journal article
Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.
- Published in:
- 2019
- By:
- Publication type:
- corrected article
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00611
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- Publication type:
- Article
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
- Published in:
- Nucleic Acids Research, 2019, v. 47, n. D1, p. D1018, doi. 10.1093/nar/gky1105
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- Publication type:
- Article
Silver Russel syndrome in an aboriginal patient from Australia.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2561, doi. 10.1002/ajmg.a.40502
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- Publication type:
- Article
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Progress in Rare Diseases Research 2010–2016: An IRDiRC Perspective.
- Published in:
- CTS: Clinical & Translational Science, 2018, v. 11, n. 1, p. 11, doi. 10.1111/cts.12501
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- Publication type:
- Article
The Human Phenotype Ontology in 2017.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. D1, p. D865, doi. 10.1093/nar/gkw1039
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- Publication type:
- Article
Survey of healthcare experiences of Australian adults living with rare diseases.
- Published in:
- 2016
- By:
- Publication type:
- journal article
A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1659, doi. 10.1002/ajmg.a.37070
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- Publication type:
- Article
International Charter of principles for sharing bio-specimens and data.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 721, doi. 10.1038/ejhg.2014.197
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- Publication type:
- Article
Use of mechanical airway clearance devices in the home by people with neuromuscular disorders: effects on health service use and lifestyle benefits.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0267-0
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- Publication type:
- Article
The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations.
- Published in:
- Human Mutation, 2015, v. 36, n. 4, p. 395, doi. 10.1002/humu.22758
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- Publication type:
- Article
Phenotyping: Targeting genotype's rich cousin for diagnosis.
- Published in:
- Journal of Paediatrics & Child Health, 2015, v. 51, n. 4, p. 381, doi. 10.1111/jpc.12705
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- Publication type:
- Article
Current trends in biobanking for rare diseases: a review.
- Published in:
- Journal of Biorepository Science for Applied Medicine, 2014, v. 2, p. 49, doi. 10.2147/BSAM.S46707
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- Publication type:
- Article
RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research.
- Published in:
- JGIM: Journal of General Internal Medicine, 2014, v. 29, p. 780, doi. 10.1007/s11606-014-2908-8
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- Publication type:
- Article
Factors influencing neonatal thyroid-stimulating hormone concentrations as a measure of population iodine status.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 1/2, p. 101, doi. 10.1515/jpem-2013-0189
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- Publication type:
- Article
The TREAT- NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia.
- Published in:
- Human Mutation, 2013, v. 34, n. 11, p. 1449, doi. 10.1002/humu.22390
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- Publication type:
- Article
Dispelling myths about rare disease registry system development.
- Published in:
- Source Code for Biology & Medicine, 2013, v. 8, n. 1, p. 2, doi. 10.1186/1751-0473-8-21
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- Publication type:
- Article
Objective Monitoring of mTOR Inhibitor Therapy by Three-Dimensional Facial Analysis.
- Published in:
- Twin Research & Human Genetics, 2013, v. 16, n. 4, p. 840, doi. 10.1017/thg.2013.49
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- Publication type:
- Article
Blueprint for a deliberative public forum on biobanking policy: were theoretical principles achievable in practice?
- Published in:
- Health Expectations, 2013, v. 16, n. 2, p. 211, doi. 10.1111/j.1369-7625.2011.00701.x
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- Publication type:
- Article
Rare diseases and now rare data?
- Published in:
- Nature Reviews Genetics, 2013, v. 14, n. 6, p. 372, doi. 10.1038/nrg3494
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- Publication type:
- Article
The Facial Evolution: Looking Backward and Moving Forward.
- Published in:
- Human Mutation, 2013, v. 34, n. 1, p. 14, doi. 10.1002/humu.22219
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- Publication type:
- Article
A modular approach to disease registry design: Successful adoption of an internet-based rare disease registry.
- Published in:
- Human Mutation, 2012, v. 33, n. 10, p. E2356, doi. 10.1002/humu.22154
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- Publication type:
- Article
Key outcomes from stakeholder workshops at a symposium to inform the development of an Australian national plan for rare diseases.
- Published in:
- 2012
- By:
- Publication type:
- Proceeding
An Australian Approach to the Policy Translation of Deliberated Citizen Perspectives on Biobanking.
- Published in:
- Public Health Genomics, 2012, v. 15, n. 2, p. 82, doi. 10.1159/000334104
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- Publication type:
- Article
Awakening Australia to Rare Diseases: symposium report and preliminary outcomes.
- Published in:
- 2011
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- Publication type:
- editorial
Purification of the keratan sulfate proteoglycan expressed in prostatic secretory cells and its identification as lumican.
- Published in:
- Prostate, 2004, v. 59, n. 3, p. 252, doi. 10.1002/pros.20002
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- Publication type:
- Article
Human gene patents: the possible impacts on genetic services healthcare.
- Published in:
- Medical Journal of Australia, 2003, v. 179, n. 4, p. 203, doi. 10.5694/j.1326-5377.2003.tb05500.x
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- Publication type:
- Article
Proteomic analysis of normal and malignant prostate tissue to identify novel proteins lost in cancer.
- Published in:
- Prostate, 2002, v. 50, n. 1, p. 54, doi. 10.1002/pros.10032
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- Publication type:
- Article
Distinction between intraductal carcinoma of the prostate (IDC-P), high-grade dysplasia (PIN), and invasive prostatic adenocarcinoma, using molecular markers of cancer progression.
- Published in:
- Prostate, 2000, v. 44, n. 4, p. 265, doi. 10.1002/1097-0045(20000901)44:4<265::AID-PROS1>3.0.CO;2-I
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- Publication type:
- Article
Identification of the glycosaminoglycan keratan sulfate in the prostatic secretory cell.
- Published in:
- Prostate, 2000, v. 44, n. 3, p. 204, doi. 10.1002/1097-0045(20000801)44:3<204::AID-PROS4>3.0.CO;2-W
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- Publication type:
- Article
Detection of p53 gene mutation by rapid PCR-SSCP and its association with poor survival in breast cancer.
- Published in:
- International Journal of Cancer, 1997, v. 74, n. 6, p. 642, doi. 10.1002/(SICI)1097-0215(19971219)74:6<642::AID-IJC15>3.0.CO;2-7
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- Publication type:
- Article
Fine deletion mapping on the long arm of chromosome 9 in sporadic and familial basal cell carcinomas.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 1, p. 129
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- Publication type:
- Article
Expression of stromelysin-3 and nm23 in breast carcinoma and related tissues.
- Published in:
- International Journal of Cancer, 1994, v. 58, n. 2, p. 157, doi. 10.1002/ijc.2910580202
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- Publication type:
- Article
The relative prognostic significance of total cathepsin D and HER-2/neu oncogene amplification in breast cancer.
- Published in:
- International Journal of Cancer, 1994, v. 56, n. 1, p. 61, doi. 10.1002/ijc.2910560112
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- Publication type:
- Article