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Use of privacy‐preserving record linkage to examine the dispensing of pharmaceutical benefits scheme medicines to pregnant women in Western Australia.
- Published in:
- Pharmacoepidemiology & Drug Safety, 2024, v. 33, n. 6, p. 1, doi. 10.1002/pds.5845
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- Publication type:
- Article
Author Correction: Analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases.
- Published in:
- 2024
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- Publication type:
- Correction Notice
Stigma associated with genetic testing for rare diseases--causes and recommendations.
- Published in:
- Frontiers in Genetics, 2024, p. 01, doi. 10.3389/fgene.2024.1335768
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- Publication type:
- Article
Cluster analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-55424-8
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- Publication type:
- Article
An evaluation of GPT models for phenotype concept recognition.
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- BMC Medical Informatics & Decision Making, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12911-024-02439-w
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- Publication type:
- Article
The Human Phenotype Ontology in 2024: phenotypes around the world.
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- Nucleic Acids Research, 2024, v. 52, n. D1, p. D1333, doi. 10.1093/nar/gkad1005
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- Publication type:
- Article
Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease.
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- Stem Cell Research & Therapy, 2023, v. 14, n. 1, p. 1, doi. 10.1186/s13287-023-03592-1
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- Publication type:
- Article
Prevalence and trends for Aboriginal and Torres Strait Islander children living with cerebral palsy: A birds-eye view.
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- Developmental Medicine & Child Neurology, 2023, v. 65, n. 11, p. 1475, doi. 10.1111/dmcn.15617
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- Article
The psychosocial impact of childhood dementia on children and their parents: a systematic review.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02859-3
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- Publication type:
- Article
Trends in prenatal diagnosis of congenital anomalies in Western Australia between 1980 and 2020: A population‐based study.
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- Paediatric & Perinatal Epidemiology, 2023, v. 37, n. 7, p. 596, doi. 10.1111/ppe.12983
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- Publication type:
- Article
Epidemiology of Hospital Admissions for Craniosynostosis in Australia: A Population-Based Study.
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- Cleft Palate Craniofacial Journal, 2023, v. 60, n. 5, p. 569, doi. 10.1177/10556656221074215
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- Publication type:
- Article
Patterns, trends, and factors influencing hospitalizations for craniosynostosis in Western Australia. A population-based study.
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- European Journal of Pediatrics, 2023, v. 182, n. 5, p. 2379, doi. 10.1007/s00431-023-04922-4
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- Publication type:
- Article
3D facial analysis for rare disease diagnosis and treatment monitoring: Proof-Of-Concept plan for hereditary angioedema.
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- PLoS Digital Health, 2023, v. 1, n. 3, p. 1, doi. 10.1371/journal.pdig.0000090
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- Publication type:
- Article
Rare diseases: New approaches to diagnosis and care.
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- Medicine Today, 2023, v. 24, n. 1/2, p. 69
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- Publication type:
- Article
Rare disease education in Europe and beyond: time to act.
- Published in:
- Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02527-y
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- Publication type:
- Article
Common data elements to standardize genomics studies in cerebral palsy.
- Published in:
- Developmental Medicine & Child Neurology, 2022, v. 64, n. 12, p. 1470, doi. 10.1111/dmcn.15245
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- Publication type:
- Article
The risk of major structural birth defects associated with seasonal influenza vaccination during pregnancy: A population‐based cohort study.
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- Birth Defects Research, 2022, v. 114, n. 19, p. 1244, doi. 10.1002/bdr2.2049
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- Publication type:
- Article
Description of Total Population Hospital Admissions for Treacher Collins Syndrome in Australia.
- Published in:
- Cleft Palate Craniofacial Journal, 2022, v. 59, n. 9, p. 1167, doi. 10.1177/10556656211036618
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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
Development of an International Database for a Rare Genetic Disorder: The MECP2 Duplication Database (MDBase).
- Published in:
- Children, 2022, v. 9, n. 8, p. 1111, doi. 10.3390/children9081111
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- Publication type:
- Article
Further evidence for distinct traits associated with RBM10 missense variants.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 2, p. 161, doi. 10.1111/cge.14163
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- Publication type:
- Article
The GA4GH Phenopacket schema defines a computable representation of clinical data.
- Published in:
- 2022
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- Publication type:
- Letter
Unlocking sociocultural and community factors for the global adoption of genomic medicine.
- Published in:
- 2022
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- Publication type:
- Journal Article
Medical Comorbidities in MECP2 Duplication Syndrome: Results from the International MECP2 Duplication Database.
- Published in:
- Children, 2022, v. 9, n. 5, p. 633, doi. 10.3390/children9050633
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- Publication type:
- Article
A brief history of MECP2 duplication syndrome: 20-years of clinical understanding.
- Published in:
- 2022
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- Publication type:
- journal article
CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency.
- Published in:
- Stem Cell Research & Therapy, 2022, v. 13, n. 1, p. 1, doi. 10.1186/s13287-022-02740-3
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- Publication type:
- Article
Paediatric genomic testing: Navigating genomic reports for the general paediatrician.
- Published in:
- Journal of Paediatrics & Child Health, 2022, v. 58, n. 1, p. 8, doi. 10.1111/jpc.15703
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- Publication type:
- Article
People with Cerebral Palsy and Their Family's Preferences about Genomics Research.
- Published in:
- Public Health Genomics, 2022, v. 25, n. 1/2, p. 22, doi. 10.1159/000518942
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- Publication type:
- Article
Childhood rare diseases and the UN convention on the rights of the child.
- Published in:
- 2021
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- Publication type:
- letter
Innovation in Informatics to Improve Clinical Care and Drug Accessibility for Rare Diseases in China.
- Published in:
- Frontiers in Pharmacology, 2021, v. 12, p. 1, doi. 10.3389/fphar.2021.719415
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- Publication type:
- Article
Birth prevalence of congenital heart defects in Western Australia, 1990–2016.
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- Journal of Paediatrics & Child Health, 2021, v. 57, n. 10, p. 1672, doi. 10.1111/jpc.15592
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- Publication type:
- Article
Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families.
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- Clinical Genetics, 2021, v. 100, n. 2, p. 168, doi. 10.1111/cge.13969
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- Publication type:
- Article
Survival of infants born with esophageal atresia among 24 international birth defects surveillance programs.
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- Birth Defects Research, 2021, v. 113, n. 12, p. 945, doi. 10.1002/bdr2.1891
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- Publication type:
- Article
Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-91465-z
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- Publication type:
- Article
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00900-3
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- Publication type:
- Article
Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay.
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- Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 3, p. 1, doi. 10.1101/mcs.a005991
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- Publication type:
- Article
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00900-3
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- Publication type:
- Article
"This is my boy's health! Talk straight to me!" perspectives on accessible and culturally safe care among Aboriginal and Torres Strait Islander patients of clinical genetics services.
- Published in:
- International Journal for Equity in Health, 2021, v. 20, n. 1, p. 1, doi. 10.1186/s12939-021-01443-0
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- Publication type:
- Article
Paediatric genomic testing: Navigating medicare rebatable genomic testing.
- Published in:
- Journal of Paediatrics & Child Health, 2021, v. 57, n. 4, p. 477, doi. 10.1111/jpc.15382
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- Publication type:
- Article
Culturally competent communication in Indigenous disability assessment: a qualitative study.
- Published in:
- International Journal for Equity in Health, 2021, v. 20, n. 1, p. 1, doi. 10.1186/s12939-021-01402-9
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- Publication type:
- Article
Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC‐7 Mutants.
- Published in:
- Journal of Bone & Mineral Research, 2021, v. 36, n. 3, p. 531, doi. 10.1002/jbmr.4200
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- Publication type:
- Article
A community-based co-designed genetic health service model for Aboriginal Australians.
- Published in:
- PLoS ONE, 2020, v. 15, n. 10, p. 1, doi. 10.1371/journal.pone.0239765
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- Publication type:
- Article
Protecting the rare during a rare pandemic.
- Published in:
- 2020
- By:
- Publication type:
- letter
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.
- Published in:
- Frontiers in Molecular Neuroscience, 2020, v. 13, p. 1, doi. 10.3389/fnmol.2020.00012
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- Publication type:
- Article
The Deep Genome Project.
- Published in:
- 2020
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- Publication type:
- Editorial
Personalised analytics for rare disease diagnostics.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-13345-5
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- Publication type:
- Article
Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab.
- Published in:
- Pediatric Dermatology, 2019, v. 36, n. 6, p. 1002, doi. 10.1111/pde.13995
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- Publication type:
- 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
Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy.
- Published in:
- Journal of Child Neurology, 2019, v. 34, n. 8, p. 472, doi. 10.1177/0883073819840449
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- Publication type:
- Article
Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 2, p. N.PAG, doi. 10.1002/mgg3.507
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- Publication type:
- Article