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Academic Journal

Rare disease education in Europe and beyond: time to act.

Authors : Tumiene, Birute¹ (AUTHOR); Peters, Harm^2,3 (AUTHOR); Melegh, Bela⁴ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 12/19/2022, Vol. 17 Issue 1, p1-20. 20p.

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Academic Journal

Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries.

Authors : dos Santos Vieira, Bruna^1,2 (AUTHOR); Bernabé, César H.³ (AUTHOR); Zhang, Shuxin^4,5 (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 12/14/2022, Vol. 17 Issue 1, p1-12. 12p.

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Academic Journal

Organ donation from patients with a rare disease is often safe: the italian guidelines.

Authors : Dallapiccola, Bruno^1,2 (AUTHOR); Moriconi, Stefano² (AUTHOR); Rugge, Massimo^2,3 (AUTHOR)

Source: Clinical Transplantation. Sep2022, Vol. 36 Issue 9, p1-8. 8p.

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Academic Journal

Advancing qualitative rare disease research methodology: a comparison of virtual and in-person focus group formats.

Authors : Dwyer, Andrew A.^1,2 (AUTHOR) ; Uveges, Melissa¹ (AUTHOR); Dockray, Samantha³ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 9/11/2022, Vol. 17 Issue 1, p1-8. 8p.

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Academic Journal

'Advocacy groups are the connectors': Experiences and contributions of rare disease patient organization leaders in advanced neurotherapeutics.

Authors : Nguyen, Christina Q.^1,2; Kariyawasam, Didu^1,2; Alba‐Concepcion, Kristine^1,2

Source: Health Expectations. Dec2022, Vol. 25 Issue 6, p3175-3191. 17p. 2 Diagrams, 5 Charts, 2 Graphs.

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Academic Journal

Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies.

Authors : Cormier, Michael J.^1,2 (AUTHOR); Pedersen, Brent S.^1,2 (AUTHOR); Bayrak-Toydemir, Pinar³ (AUTHOR)

Source: BMC Bioinformatics. 11/14/2022, Vol. 23 Issue 1, p1-32. 32p.

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Academic Journal

The involvement of rare disease patient organisations in therapeutic innovation across rare paediatric neurological conditions: a narrative review.

Authors : Nguyen, Christina Q.^1,2 (AUTHOR); Alba-Concepcion, Kristine^1,2 (AUTHOR); Palmer, Elizabeth E.^2,3 (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 11/12/2022, Vol. 17 Issue 1, p1-10. 10p.

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Academic Journal

Living with a genetic, undiagnosed or rare disease: A longitudinal journalling study through the COVID‐19 pandemic.

Authors : Byun, Malia¹; Feller, Hollie²; Ferrie, Monica²

Source: Health Expectations. Oct2022, Vol. 25 Issue 5, p2223-2234. 12p. 2 Color Photographs, 2 Charts, 2 Graphs.

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Academic Journal

Enhancing Enrollment in Biomarker-Driven Oncology and Rare Disease Trials: Integrated approaches can help enhance recruitment plans.

Authors : Mahillo, Esther¹

Source: Applied Clinical Trials. Oct2022, Vol. 31 Issue 10, p22-25. 4p.

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Academic Journal

Eosinophilic gastroenteritis: A case series of a rare disease from an apex Tertiary Care Center in South India.

Authors : Janardhanan, Sandheep¹ (AUTHOR); James, Allwin¹ (AUTHOR); Palaniappan, Alagammai² (AUTHOR)

Source: Annals of African Medicine. Oct-Dec2022, Vol. 21 Issue 4, p461-465. 5p.

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فلترة النتائج

Rare disease education in Europe and beyond: time to act.

Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries.

Organ donation from patients with a rare disease is often safe: the italian guidelines.

Advancing qualitative rare disease research methodology: a comparison of virtual and in-person focus group formats.

'Advocacy groups are the connectors': Experiences and contributions of rare disease patient organization leaders in advanced neurotherapeutics.

Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies.

The involvement of rare disease patient organisations in therapeutic innovation across rare paediatric neurological conditions: a narrative review.

Living with a genetic, undiagnosed or rare disease: A longitudinal journalling study through the COVID‐19 pandemic.

Enhancing Enrollment in Biomarker-Driven Oncology and Rare Disease Trials: Integrated approaches can help enhance recruitment plans.

Eosinophilic gastroenteritis: A case series of a rare disease from an apex Tertiary Care Center in South India.

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