ERD

Generation of an induced pluripotent stem cell line carrying biallelic deletions (SCTCi019-B) in ALDH7A1 using CRISPR/Ca...

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

CHARON: An Imaging-Based Diagnostic Algorithm to Navigate Through the Sea of Hereditary Degenerative Ataxias

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

Phenotypic features of RETREG1‐related hereditary sensory autonomic neuropathy

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

Optimizing designs in clinical trials with an application in treatment of Epidermolysis bullosa simplex, a rare genetic ...

Project: EJP RD

Updated at: 01-11-2024

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Project acronym EJP RD

Periodic Reporting for period 5 - EJP RD (European Joint Programme on Rare Diseases)

Project: EJP RD

Updated at: 01-11-2024

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Project acronym EJP RD

Final Report of funded demonstration projects

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

How to Analyze Continuous and Discrete Repeated Measures in Small-Sample Cross-Over Trials?

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

The GA4GH Phenopacket schema defines a computable representation of clinical data

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

Machine learning in Huntington’s disease: exploring the Enroll-HD dataset for prognosis and driving capability predict...

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

Second Report on course on interpretation of genetic variants and quality standards

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

A Simple Standard for Sharing Ontological Mappings (SSSOM)

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

Automated approach for quality assessment of RDF resources

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

Second Report on International course on Rare Disease Registries and FAIRification of data at source

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

Second Report of Orphanet nomenclature training for trainers and national trainings

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

Fifth Scoping paper

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

Getting your DUCs in a row - standardising the representation of Digital Use Conditions

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

Second Report on sample data management training workshops

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

Report on paediatric patients' experts training courses

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

Fifth Ontological model of resources metadata

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant...

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

ABCA4 Variant c.5714+5G&gt;A in Trans With Null Alleles Results in Primary RPE Damage

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

Comparing regression curves: an L1-point of view

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

Artificial intelligence-enhanced electrocardiography derived body mass index as a predictor of future cardiometabolic di...

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

Exploring pathway interactions to detect molecular mechanisms of disease: 22q11.2 deletion syndrome

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

Content of the full online course

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

Second Report on EURORDIS' Leadership Programme

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

Assessing resolvability, parsability, and consistency of RDF resources: a use case in rare diseases

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

Fifth version Additional facilities integrated to resources regarding data deposition and access, including user guideli...

Project: EJP RD

Updated at: 01-10-2024

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Project acronym EJP RD

Resources

Generation of an induced pluripotent stem cell line carrying biallelic deletions (SCTCi019-B) in ALDH7A1 using CRISPR/Ca...

CHARON: An Imaging-Based Diagnostic Algorithm to Navigate Through the Sea of Hereditary Degenerative Ataxias

Phenotypic features of <i>RETREG1</i>‐related hereditary sensory autonomic neuropathy

Optimizing designs in clinical trials with an application in treatment of Epidermolysis bullosa simplex, a rare genetic ...

Periodic Reporting for period 5 - EJP RD (European Joint Programme on Rare Diseases)

Final Report of funded demonstration projects

Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome

How to Analyze Continuous and Discrete Repeated Measures in Small-Sample Cross-Over Trials?

The GA4GH Phenopacket schema defines a computable representation of clinical data

Machine learning in Huntington’s disease: exploring the Enroll-HD dataset for prognosis and driving capability predict...

Second Report on course on interpretation of genetic variants and quality standards

CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes

A Simple Standard for Sharing Ontological Mappings (SSSOM)

Automated approach for quality assessment of RDF resources

Second Report on International course on Rare Disease Registries and FAIRification of data at source

Second Report of Orphanet nomenclature training for trainers and national trainings

Fifth Scoping paper

Getting your DUCs in a row - standardising the representation of Digital Use Conditions

Second Report on sample data management training workshops

Report on paediatric patients' experts training courses

Fifth Ontological model of resources metadata

SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant...

<i>ABCA4</i> Variant c.5714+5G&gt;A in <i>Trans</i> With Null Alleles Results in Primary RPE Damage

Comparing regression curves: an L1-point of view

Artificial intelligence-enhanced electrocardiography derived body mass index as a predictor of future cardiometabolic di...

Exploring pathway interactions to detect molecular mechanisms of disease: 22q11.2 deletion syndrome

Content of the full online course

Second Report on EURORDIS' Leadership Programme

Assessing resolvability, parsability, and consistency of RDF resources: a use case in rare diseases

Fifth version Additional facilities integrated to resources regarding data deposition and access, including user guideli...