Found: 42
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Who owns (or controls) health data?
- Published in:
- Scientific Data, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41597-024-02982-1
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- Publication type:
- Article
A new enzymatic assay to quantify inorganic pyrophosphate in plasma.
- Published in:
- Analytical & Bioanalytical Chemistry, 2023, v. 415, n. 3, p. 481, doi. 10.1007/s00216-022-04430-8
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- Publication type:
- Article
The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 1872, doi. 10.1002/humu.24498
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- Publication type:
- Article
Comment on "Clinical practice guidelines for pseudoxanthoma elasticum (2017)": The importance of mutation analysis.
- Published in:
- Journal of Dermatology, 2022, v. 49, n. 7, p. e248, doi. 10.1111/1346-8138.16354
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- Publication type:
- Article
ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.
- Published in:
- PLoS Genetics, 2022, v. 18, n. 4, p. 1, doi. 10.1371/journal.pgen.1010192
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- Publication type:
- Article
Oral supplementation of inorganic pyrophosphate in pseudoxanthoma elasticum.
- Published in:
- Experimental Dermatology, 2022, v. 31, n. 4, p. 548, doi. 10.1111/exd.14498
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- Publication type:
- Article
The Human Face of ABCC6.
- Published in:
- FEBS Letters, 2020, v. 594, n. 23, p. 4151, doi. 10.1002/1873-3468.14002
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- Publication type:
- Article
Integrating Rules for Genomic Research, Clinical Care, Public Health Screening and DTC Testing: Creating Translational Law for Translational Genomics.
- Published in:
- Journal of Law, Medicine & Ethics, 2020, v. 48, n. 1, p. 69, doi. 10.1177/1073110520916996
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- Publication type:
- Article
Database shares that transform research subjects into partners.
- Published in:
- 2019
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- Publication type:
- Letter
Including all voices in international data-sharing governance.
- Published in:
- Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0143-9
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- Publication type:
- Article
Application of a Dynamic Map for Learning, Communicating, Navigating, and Improving Therapeutic Development.
- Published in:
- CTS: Clinical & Translational Science, 2018, v. 11, n. 2, p. 166, doi. 10.1111/cts.12531
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- Publication type:
- Article
Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective.
- Published in:
- CTS: Clinical & Translational Science, 2018, v. 11, n. 1, p. 21, doi. 10.1111/cts.12500
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- Publication type:
- Article
The study is open: Participants are now recruiting investigators.
- Published in:
- 2017
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- Publication type:
- Editorial
Clinical trial result reporting: Time to move into the 21st century.
- Published in:
- Clinical Trials, 2016, v. 13, n. 6, p. 597, doi. 10.1177/1740774516665599
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- Publication type:
- Article
Data Acquisition, Curation, and Use for a Continuously Learning Health System.
- Published in:
- JAMA: Journal of the American Medical Association, 2016, v. 316, n. 16, p. 1669, doi. 10.1001/jama.2016.12537
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- Publication type:
- Article
Privacy, Fairness, and Respect for Individuals.
- Published in:
- eGEMS (Generating Evidence & Methods to Improve Patient Outcomes), 2016, v. 4, n. 2, p. 1, doi. 10.13063/2327-9214.1207
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- Publication type:
- Article
Hearing voices: FDA seeks advice from patients.
- Published in:
- 2015
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- Publication type:
- Editorial
Participant-Driven Matchmaking in the Genomic Era.
- Published in:
- Human Mutation, 2015, v. 36, n. 10, p. 965, doi. 10.1002/humu.22852
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- Publication type:
- Article
Making Personalized Health Care Even More Personalized: Insights From Activities of the IOM Genomics Roundtable.
- Published in:
- 2015
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- Publication type:
- Opinion
Copy number variation in the ATP-binding cassette transporter ABCC6 gene and ABCC6 pseudogenes in patients with pseudoxanthoma elasticum.
- Published in:
- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 3, p. 233, doi. 10.1002/mgg3.137
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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
Assessing NIH's Big Idea.
- Published in:
- Science Translational Medicine, 2013, v. 5, n. 196, p. 1, doi. 10.1126/scitranslmed.3006851
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- Publication type:
- Article
Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting.
- Published in:
- Journal of Investigative Dermatology, 2013, v. 133, n. 6, p. 1444, doi. 10.1038/jid.2013.20
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- Publication type:
- Article
Response to the Commentary 'Significance of Patient Registries for Dermatological Disorder'.
- Published in:
- Journal of Investigative Dermatology, 2013, v. 133, n. 5, p. 1361, doi. 10.1038/jid.2012.469
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- Publication type:
- Article
An End to the Myth: There Is No Drug Development Pipeline.
- Published in:
- Science Translational Medicine, 2013, v. 5, n. 171, p. 1, doi. 10.1126/scitranslmed.3003505
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- Publication type:
- Article
Reporting Actionable Research Results: Shared Secrets Can Save Lives.
- Published in:
- Science Translational Medicine, 2012, v. 4, n. 143, p. 1, doi. 10.1126/scitranslmed.3003958
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- Publication type:
- Article
From patients to partners: participant-centric initiatives in biomedical research.
- Published in:
- Nature Reviews Genetics, 2012, v. 13, n. 5, p. 371, doi. 10.1038/nrg3218
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- Publication type:
- Article
Community Engagement about Genetic Variation Research.
- Published in:
- 2012
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- Publication type:
- Journal Article
Erratum to 'Pseudoxanthoma Elasticum: Progress in Diagnostics and Research Towards Treatment Summary of the 2010 PXE International Research Meeting' Volume 155, Issue 7, July 2011, Pages: 1517-1526 Article First Published Online: 10 Jun 2011, DOI: 10.1002/ajmg.a.34067
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3176, doi. 10.1002/ajmg.a.34243
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- Publication type:
- Article
Response to 'Mutation (variation) databases and registries: a rationale for coordination of efforts': an IRDiRC perspective.
- Published in:
- 2011
- By:
- Publication type:
- Letter
Pseudoxanthoma elasticum: Progress in diagnostics and research towards treatment.
- Published in:
- 2011
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- Publication type:
- Other
Power to the People: Participant Ownership of Clinical Trial Data.
- Published in:
- Science Translational Medicine, 2011, v. 3, n. 69, p. 1, doi. 10.1126/scitranslmed.3001857
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- Publication type:
- Article
Rare conditions: Where do primary care and genetic diseases intersect?
- Published in:
- JAAPA: Journal of the American Academy of Physician Assistants (Haymarket Media, Inc.), 2010, v. 23, n. 11, p. 63, doi. 10.1097/01720610-201011000-00020
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- Publication type:
- Article
Accelerate medical breakthroughs by ending disease earmarks.
- Published in:
- 2010
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- Publication type:
- journal article
Ensuring the Safe Use of Genomic Medicine in Children.
- Published in:
- Clinical Pediatrics, 2009, v. 48, n. 7, p. 703, doi. 10.1177/0009922809335736
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- Publication type:
- Article
Blood-strong love.
- Published in:
- 2008
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- Publication type:
- Book Review
Managing Incidental Findings in Human Subjects Research: Analysis and Recommendations.
- Published in:
- Journal of Law, Medicine & Ethics, 2008, v. 36, n. 2, p. 219, doi. 10.1111/j.1748-720X.2008.00266.x
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- Publication type:
- Article
Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart.
- Published in:
- Human Mutation, 2008, v. 29, n. 1, p. 205, doi. 10.1002/humu.9514
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- Publication type:
- Article
Pseudoxanthoma Elasticum-Like Phenotype with Cutis Laxa and Multiple Coagulation Factor Deficiency Represents a Separate Genetic Entity.
- Published in:
- Journal of Investigative Dermatology, 2007, v. 127, n. 3, p. 581, doi. 10.1038/sj.jid.5700610
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- Publication type:
- Article
Advocacy groups as research organizations: the PXE International example.
- Published in:
- 2007
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- Publication type:
- research
A Consumer Perspective on Forensic DNA Banking.
- Published in:
- Journal of Law, Medicine & Ethics, 2006, v. 34, n. 2, p. 408, doi. 10.1111/j.1748-720X.2006.00047.x
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- Publication type:
- Article
Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa.
- Published in:
- Human Genetics, 2002, v. 111, n. 4/5, p. 331, doi. 10.1007/s00439-002-0808-1
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- Publication type:
- Article