| scholarly article | Q13442814 |
| P356 | DOI | 10.1038/EJHG.2016.137 |
| P2888 | exact match | https://scigraph.springernature.com/pub.10.1038/ejhg.2016.137 |
| P932 | PMC publication ID | 5255942 |
| P698 | PubMed publication ID | 27782107 |
| P50 | author | Gareth Baynam | Q55739363 |
| Kym M Boycott | Q61638582 | ||
| Christopher P Austin | Q87934606 | ||
| Hanns Lochmüller | Q28321948 | ||
| P2093 | author name string | Paul Lasko | |
| Petra Kaufmann | |||
| Yann Le Cam | |||
| Hugh Js Dawkins | |||
| Anneliene H Jonker | |||
| Lilian Pl Lau | |||
| P2860 | cites work | The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data | Q27927005 |
| The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development | Q28088277 | ||
| International Charter of principles for sharing bio-specimens and data | Q28602512 | ||
| Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER | Q28604234 | ||
| The Matchmaker Exchange: a platform for rare disease gene discovery | Q28610742 | ||
| GENOMICS. A federated ecosystem for sharing genomic, clinical data | Q31107067 | ||
| PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases | Q33787699 | ||
| OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders | Q34449729 | ||
| Enhancing translation: guidelines for standard pre-clinical experiments in mdx mice | Q35583176 | ||
| The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases | Q37285058 | ||
| The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia | Q38406108 | ||
| Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users | Q38474579 | ||
| IRDiRC-recommended | Q42381670 | ||
| 157th ENMC International Workshop: patient registries for rare, inherited muscular disorders 25-27 January 2008 Naarden, The Netherlands | Q46096209 | ||
| P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P433 | issue | 2 | |
| P921 | main subject | rare disease | Q929833 |
| data sharing | Q5227350 | ||
| P304 | page(s) | 162-165 | |
| P577 | publication date | 2016-10-26 | |
| P1433 | published in | European Journal of Human Genetics | Q2155433 |
| P1476 | title | 'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases | |
| P478 | volume | 25 |
| Q38682967 | "Matching" consent to purpose: The example of the Matchmaker Exchange. |
| Q45951408 | A Global Approach to Rare Diseases Research and Orphan Products Development: The International Rare Diseases Research Consortium (IRDiRC). |
| Q60913843 | An ontological foundation for ocular phenotypes and rare eye diseases |
| Q38745594 | Building dialogues between clinical and biomedical research through cross-species collaborations. |
| Q64974616 | Identifying Clinical Terms in Medical Text Using Ontology-Guided Machine Learning. |
| Q47274350 | Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework |
| Q38433913 | International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases |
| Q64039556 | International collaborative actions and transparency to understand, diagnose, and develop therapies for rare diseases |
| Q42698350 | Intersection of Proteomics and Genomics to "Solve the Unsolved" in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases. |
| Q55258215 | Position Statement: Sharing of Clinical Research Data in Spinal Muscular Atrophy to Accelerate Research and Improve Outcomes for Patients. |
| Q49442680 | Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective. |
| Q52682381 | RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases. |
| Q45951485 | The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact. |
| Q57030558 | The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage |
| Q39261204 | The importance of international collaboration for rare diseases research: a European perspective. |
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