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Poster "Cooperation in the Field of Rare Diseases: A Social Science Perspective"

• Authors : Duysens, Fanny

Subjects: Rare Diseases; Cooperation; Social Sciences

• Source: 9th European Conference on Rare Diseases & Orphan Products, Vienne, Austria [AT], Du 10 au 12 mai 2018

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Genetics of personalized medicine: cancer and rare diseases

• Authors : Inês Teles Siefers, Alves; Manuel, Condinho; Sónia, Custódio

Subjects: 0301 basic medicine; 0303 health sciences; 03 medical and health sciences

• Source: Cellular Oncology. 41:335-341

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Correction: Meeting abstracts from the 11th edition of the European conference on Rare Diseases & Orphan Products (ECRD) 2022.

• Source: Orphanet Journal of Rare Diseases. 11/30/2023, Vol. 18 Issue 1, p1-2. 2p.

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Basket trials in very rare diseases: are they feasible?

• Authors : Risca, G; Zheng, H; Valsecchi, MG ...

Subjects: Rare diseases; basket trial; Bayesian analysis

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European Joint Programme on Rare Diseases workshop: LAMA2-muscular dystrophy: paving the road to therapy March 17–19, 2023, Barcelona, Spain

• Authors : Smeets, Hubert; Verbrugge, Bram; Bulbena, Xavier ...

Subjects: LAMA2; muscular dystrophy; rare diseases

• Source: ISSN: 0960-8966 ; Neuromuscular Disorders.

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Achieving data FAIRification in a distributed analytics research platform for rare diseases

• Authors : Bernasconi, Anna; CAPPIELLO, CINZIA; Ceri, Stefano

Subjects: rare diseases; data integration; healthcare

• Source: http://lobid.org/resources/99373718757706441#!.

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NARSE goes OMOP: Mapping the dataset of the German National Registry for Rare Diseases to international standards

• Authors : Zoch, M; Reinecke, I; Henke, E

Subjects: OMOP CDM; OHDSI; NARSE

• Source: Gesundheit - gemeinsam. Kooperationstagung der Deutschen Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie (GMDS), Deutschen Gesellschaft für Sozialmedizin und Prävention

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Psychometric properties of standardised screening scales for anxiety and depression in patients presenting in centres for rare diseases

• Authors : Brandstetter, L; Selig, U; Pfister, L

Subjects: psychometric properties; mental disorder; depression

• Source: Gesundheit - gemeinsam. Kooperationstagung der Deutschen Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie (GMDS), Deutschen Gesellschaft für Sozialmedizin und Prävention

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THE IMPACT OF NEXT-GENERATION SEQUENCING ON DIAGNOSIS AND TREATMENT OF RARE DISEASES

• Authors : Stojiljković, Maja; Ugrin, Milena; Klaassen, Kristel

Subjects: rare diseases; next-generation sequencing; genomics

• Source: International Journal of Medical Genetics

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Rare diseases prompted care in ancient times.

• Authors : Curry, Andrew

• Source: Science (pre-March 2025). 3/15/2019, Vol. 363 Issue 6432, p1136-1136. 1p. 1 Color Photograph.

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