ERD

Use Cases Requiring Privacy-Preserving Record Linkage in Paediatric Oncology

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

The COVID-19 epidemiology and monitoring ontology

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

Description of Osmolyte Pathways in Maturing Mdx Mice Reveals Altered Levels of Taurine and Sodium/Myo-Inositol Co-Trans...

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

Peripheral temperature dysregulation associated with functionally altered NaV1.8 channels

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

Head movement dynamics in dystonia: a multi-centre retrospective study using visual perceptive deep learning

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on co...

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

Diagnostic yield from cardiac gene testing for inherited cardiac conditions and re-evaluation of pre-ACMG variants of un...

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRD...

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

Drug repurposing in Rett and Rett-like syndromes: a promising yet underrated opportunity?

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to r...

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

Age-dependent neurodegeneration and neuroinflammation in a genetic A30P/A53T double-mutated α-synuclein mouse model of ...

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

The European joint programme on rare diseases: building the rare diseases research ecosystem

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

Synthetic datasets for open software development in rare disease research

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

Dystonia in <scp>ATP</scp> Synthase Defects: Reconnecting Mitochondria and Dopamine

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

Heterogeneous Phenotypic Evolution in <scp><i>ANO3</i></scp>‐Related Dystonia Due to the Recurrent <scp>p.Glu510Lys</s...

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

Additional file 1 of The de novo FAIRification process of a registry for vascular anomalies

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

Integrative analysis of multi-omics data reveals importance of collagen and the PI3K AKT signalling pathway in CAKUT

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

Exploring the Therapeutic Potential of Ectoine in Duchenne Muscular Dystrophy: Comparison with Taurine, a Supplement wit...

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

Sustainable approaches for drug repurposing in rare diseases: recommendations from the IRDiRC Task Force

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

Levels of Neurofilament Light at the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type 1

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

Additional file 2 of Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and...

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalm...

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

Ensembl 2022

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

Overview of treatment strategies in paraneoplastic neurological syndromes

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

Consensus recommendations on mental health issues in Phelan-McDermid syndrome

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

Innovative methodologies for rare diseases clinical trials

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

Genome Aggregation Database Version 4—New Challenges of Variant Analysis in Movement Disorders

Project: EJP RD

Updated at: 01-03-2025

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Project acronym EJP RD

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