ERD

Second Report on ExPRESS

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

A neutral comparison of statistical methods for analyzing longitudinally measured ordinal outcomes in rare diseases

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

Second Report on training of patient representatives on scientific innovation and translational research in RD

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

Second List of funded networks in Networking scheme

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare disease...

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

Ensembl 2024

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

Extending inherited metabolic disorder diagnostics with biomarker interaction visualizations

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

Lissencephaly: Update on diagnostics and clinical management

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

A FAIR catalog of ontology-driven conceptual models

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

Common conditions of use elements. Atomic concepts for consistent and effective information governance

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

Content of the first 5 online modules

Project: EJP RD

Updated at: 26-06-2024

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Project acronym EJP RD

Fourth version Additional facilities integrated to resources regarding data deposition and access, including user guidel...

Project: EJP RD

Updated at: 11-06-2024

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Project acronym EJP RD

Composite endpoints, including patient reported outcomes, in rare diseases

Project: EJP RD

Updated at: 02-05-2024

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Project acronym EJP RD

Targeting shared molecular etiologies to accelerate drug development for rare diseases

Project: EJP RD

Updated at: 02-05-2024

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Project acronym EJP RD

A Resource for Guiding Data Stewards to Make European Rare Disease Patient Registries FAIR

Project: EJP RD

Updated at: 02-05-2024

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Project acronym EJP RD

Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome

Project: EJP RD

Updated at: 02-05-2024

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Project acronym EJP RD

The use of foundational ontologies in biomedical research

Project: EJP RD

Updated at: 02-05-2024

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Project acronym EJP RD

Statistical recommendations for count, binary, and ordinal data in rare disease cross-over trials

Project: EJP RD

Updated at: 29-04-2024

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Project acronym EJP RD

Corrigendum: Reactive astrogliosis in the era of single-cell transcriptomics

Project: EJP RD

Updated at: 29-04-2024

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Project acronym EJP RD

Overlap of vitamin A and vitamin D target genes with CAKUT-related processes [version 2; peer review: 2 approved, 2 appr...

Project: EJP RD

Updated at: 29-04-2024

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Project acronym EJP RD

Recommendations from the IRDiRC Working Group on methodologies to assess the impact of diagnoses and therapies on rare d...

Project: EJP RD

Updated at: 29-04-2024

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Project acronym EJP RD

Applying the FAIR Data Principles to the Registry of Vascular Anomalies (VASCA)

Project: EJP RD

Updated at: 26-03-2024

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Project acronym EJP RD

The de novo FAIRification process of a registry for vascular anomalies

Project: EJP RD

Updated at: 26-03-2024

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Project acronym EJP RD

Second report from the face-to-face ExCom and Policy Board meeting

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Second Ontological model of resources metadata

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Third Ontological model of resources metadata

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Identifying obstacles hindering the conduct of academic-sponsored trials for drug repurposing on rare-diseases: an analy...

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Adenine base editing efficiently restores the function of Fanconi anemia hematopoietic stem and progenitor cells

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Semantic modelling of Common Data Elements for Rare Disease registries, and a prototype workflow for their deployment ov...

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3.

Project: EJP RD

Updated at: 31-01-2024

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Project acronym EJP RD

Resources

Selected filters:

Second Report on ExPRESS

A neutral comparison of statistical methods for analyzing longitudinally measured ordinal outcomes in rare diseases

Second Report on training of patient representatives on scientific innovation and translational research in RD

Second List of funded networks in Networking scheme

Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare disease...

Ensembl 2024

Extending inherited metabolic disorder diagnostics with biomarker interaction visualizations

Lissencephaly: Update on diagnostics and clinical management

A FAIR catalog of ontology-driven conceptual models

Common conditions of use elements. Atomic concepts for consistent and effective information governance

Content of the first 5 online modules

Fourth version Additional facilities integrated to resources regarding data deposition and access, including user guidel...

Composite endpoints, including patient reported outcomes, in rare diseases

Targeting shared molecular etiologies to accelerate drug development for rare diseases

A Resource for Guiding Data Stewards to Make European Rare Disease Patient Registries FAIR

Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome

The use of foundational ontologies in biomedical research

Statistical recommendations for count, binary, and ordinal data in rare disease cross-over trials

Corrigendum: Reactive astrogliosis in the era of single-cell transcriptomics

Overlap of vitamin A and vitamin D target genes with CAKUT-related processes [version 2; peer review: 2 approved, 2 appr...

Recommendations from the IRDiRC Working Group on methodologies to assess the impact of diagnoses and therapies on rare d...

Applying the FAIR Data Principles to the Registry of Vascular Anomalies (VASCA)

The de novo FAIRification process of a registry for vascular anomalies

Second report from the face-to-face ExCom and Policy Board meeting

Second Ontological model of resources metadata

Third Ontological model of resources metadata

Identifying obstacles hindering the conduct of academic-sponsored trials for drug repurposing on rare-diseases: an analy...

Adenine base editing efficiently restores the function of Fanconi anemia hematopoietic stem and progenitor cells

Semantic modelling of Common Data Elements for Rare Disease registries, and a prototype workflow for their deployment ov...

Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3.