(Q36369553)

13 August 2017

Key outcomes from stakeholder workshops at a symposium to inform the development of an Australian national plan for rare diseases (English)

1 reference

13 August 2017

0 references

1 reference

Caron Molster

1

1 reference

13 August 2017

Leanne Youngs

2

1 reference

13 August 2017

Emma Hammond

3

1 reference

13 August 2017

Hugh Dawkins

4

1 reference

13 August 2017

National Rare Diseases Coordinating Committee

5

1 reference

13 August 2017

National Rare Diseases Working Group

6

1 reference

13 August 2017

10 August 2012

1 reference

Orphanet Journal of Rare Diseases

13 August 2017

1 reference

13 August 2017

7

1 reference

13 August 2017

50

1 reference

Genetics in health care: an overview of current and emerging models

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488492

Blueprint for a deliberative public forum on biobanking policy: were theoretical principles achievable in practice?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488492

Measuring integrated care

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488492

CEMARA an information system for rare diseases.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488492

National plans and strategies on rare diseases in Europe

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488492

Creating a European Union framework for actions in the field of rare diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488492

Rare Diseases Social Epidemiology: Analysis of Inequalities

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488492

Patient Registries: Utility, Validity and Inference

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488492

Rare Diseases – Avoiding Misperceptions and Establishing Realities: The Need for Reliable Epidemiological Data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488492

What are the current barriers to effective cancer care coordination? A qualitative study

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488492

Huntington disease: families' experiences of healthcare services

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488492

Clinical research for rare disease: opportunities, challenges, and solutions

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488492

Rare childhood diseases: how should we respond?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488492

Why rare diseases are an important medical and social issue

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488492

Developing a national collaborative study system for rare genetic diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488492

Networking for rare diseases: a necessity for Europe

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488492

Access to information supporting availability of medicines for patients suffering from rare diseases looking for possible treatments: the EuOrphan Service.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488492

The use of the internet in data assimilation in rare diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488492

Awakening Australia to Rare Diseases: symposium report and preliminary outcomes.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488492

International Rare Disease Research Consortium commits to aggressive goals.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488492

The impact of parent advocacy groups, the Internet, and social networking on rare diseases: the IDEA League and IDEA League United Kingdom example.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488492

Care for patients with ultra-rare disorders

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488492

Diagnostic delay in sternocostoclavicular hyperostosis: impact on various aspects of quality of life.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488492

International conferences on rare diseases: initiatives in commitment, patient care and connections.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488492

Report of an international survey of molecular genetic testing laboratories.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488492

Meeting the needs of parents around the time of diagnosis of disability among their children: evaluation of a novel program for information, support, and liaison by key workers.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488492

Tackling the Problem of Rare Diseases in Public Health: The Italian Approach

21 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1750-1172-7-50

Orphan drug designation and pharmacogenomics: options and opportunities

21 January 2018

1 reference

12 December 2020

The common problem of rare disease in general practice

1 reference

12 December 2020

Access to and quality of health and social care for rare diseases: patients' and caregivers' experiences

1 reference

12 December 2020

Tackling rare diseases at European level: why do we need a harmonized framework?

1 reference

12 December 2020

Empowerment of patients: lessons from the rare diseases community

1 reference

12 December 2020

How did uncommon disorders become 'rare diseases'? History of a boundary object

1 reference

12 December 2020

Call for a national plan for rare diseases

1 reference

12 December 2020

National Organization for Rare Disorders (NORD): providing advocacy for people with rare disorders

1 reference

12 December 2020

From symptom onset to a diagnosis of amyotrophic lateral sclerosis/motor neuron disease (ALS/MND): Experiences of people with ALS/MND and family carers – a qualitative study

1 reference

12 December 2020

Taking the patient's side: the ethics of pharmacogenetics

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-7-50

1 reference

Dimensions Publication ID

13 August 2017

0 references

1 reference

13 August 2017

PubMed publication ID

22883422

1 reference