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Academic Journal

Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.

Authors : Martin-Geary, Alexandra C.^1,2 (AUTHOR) ; Blakes, Alexander J.M.³ (AUTHOR); Dawes, Ruebena^1,2 (AUTHOR)

Source: Genome Medicine. 4/14/2025, Vol. 17 Issue 1, p1-16. 16p.

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Academic Journal

Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study.

Authors : Cavadias, Iphigénie^1,2,3,4 (AUTHOR) ; Viaud, Magali^1,4 (AUTHOR); Falampin, Marie^1,4 (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 3/11/2025, Vol. 20 Issue 1, p1-9. 9p.

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Academic Journal

Application of observational research methods to real-world studies for rare disease drugs: A scoping review protocol.

Authors : Patel, Yuti P.¹ (AUTHOR); Ghaddar, Lea¹ (AUTHOR); Lin, Yuqi¹ (AUTHOR)

Source: PLoS ONE. 3/28/2025, Vol. 20 Issue 3, p1-6. 6p.

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Academic Journal

Rare disease challenges and potential actions in the Middle East.

Authors : Fasseeh, Ahmad Nader^1,2; Korra, Nada² ; Aljedai, Ahmed^3,4

Source: International Journal for Equity in Health. 2/26/2025, Vol. 24 Issue 1, p1-14. 14p.

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Academic Journal

How does a preference-based generic health-related quality of life measure perform in patients with a rare disease? Measurement properties of the EQ-5D-Y proxy version among underage patients with neurofibromatosis type 1.

Authors : Liang, Wanxian^1,2 (AUTHOR) ; Cao, Shihuan^1,2 (AUTHOR) ; Suo, Yusi^1,2 (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 2/13/2025, Vol. 20 Issue 1, p1-11. 11p.

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Academic Journal

Important tool in our rare disease toolbox: hybrid retrospective-prospective natural history studies serve well as external comparators for rare disease studies.

Authors : Ugoji, Chinenye¹ (AUTHOR) ; Heidt, Julien¹ (AUTHOR); Largent, Joan¹ (AUTHOR)

Source: Frontiers in Drug Safety & Regulation. 2025, p1-12. 12p.

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Academic Journal

Navigating health policies and programs in India: exploring opportunities to improve rare disease management and orphan drug research.

Authors : Mishra, Sangita¹ (AUTHOR); Bhat, Deepa² (AUTHOR); Venkatesh, M. P.^1,3 (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 11/29/2024, Vol. 19 Issue 1, p1-18. 18p.

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Academic Journal

The RaDiCo information system for rare disease cohorts.

Authors : Landais, Paul¹ (AUTHOR) ; Gueguen, Sonia² (AUTHOR) ; Clement, Annick³ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 4/8/2025, Vol. 20 Issue 1, p1-14. 14p.

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Academic Journal

Systemic barriers to rare disease management in conflict zones: insights from a refugee with sturge-weber syndrome in Sudan.

Authors : Saad, Awab H.¹ (AUTHOR) ; Babiker, Ismat B.¹ (AUTHOR) ; Saad, Sulieman H.² (AUTHOR)

Source: Journal of Health, Population & Nutrition. 4/2/2025, Vol. 44 Issue 1, p1-4. 4p.

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Academic Journal

Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score natural history data in rare disease cohorts.

Authors : Lewis, Connor J.¹ (AUTHOR) ; Johnston, Jean M.¹ (AUTHOR) ; Zaragoza Domingo, Silvia² (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 3/14/2025, Vol. 20 Issue 1, p1-13. 13p.

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نتائج البحث

فلترة النتائج

Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.

Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study.

Application of observational research methods to real-world studies for rare disease drugs: A scoping review protocol.

Rare disease challenges and potential actions in the Middle East.

How does a preference-based generic health-related quality of life measure perform in patients with a rare disease? Measurement properties of the EQ-5D-Y proxy version among underage patients with neurofibromatosis type 1.

Important tool in our rare disease toolbox: hybrid retrospective-prospective natural history studies serve well as external comparators for rare disease studies.

Navigating health policies and programs in India: exploring opportunities to improve rare disease management and orphan drug research.

The RaDiCo information system for rare disease cohorts.

Systemic barriers to rare disease management in conflict zones: insights from a refugee with sturge-weber syndrome in Sudan.

Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score natural history data in rare disease cohorts.

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