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Frontiers in Health Services
|
June 15, 2026
Friedreich's ataxia patient pathway in Europe
Julie Vallortigara, Julie Greenfield, Barry Hunt, et al.
Journal of Neurology
|
October 6, 2022
Dystonia management across Europe within ERN-RND: current state and future challenges
Liesanne M Centen, David Pinter, Martje E van Egmond, et al.
European Journal of Human Genetics : EJHG
|
March 1, 2018
RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases
Hanns Lochmüller, Dorota M Badowska, Rachel Thompson, et al.
HGG Advances
|
December 12, 2025
A systematic assessment of large language models' knowledge of rare diseases: How much do large language models know about rare disease?
Tudor Groza, Allison J Marcello, Tristan Carlisle, et al.
American Journal of Human Genetics
|
May 26, 2026
Guidance on communication and informed consent with patients and their families for experimental individualized treatments
Annemieke Aartsma-Rus, Claudio M de Gusmao, Scott Demarest, et al.
Orphanet Journal of Rare Diseases
|
December 19, 2022
Rare disease education in Europe and beyond: time to act
Birute Tumiene, Harm Peters, Bela Melegh, et al.
European Journal of Human Genetics : EJHG
|
November 5, 2023
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report
David Lagorce, Emeline Lebreton, Leslie Matalonga, et al.
Parkinsonism & Related Disorders
|
March 9, 2016
Continuous leg dyskinesia assessment in Parkinson's disease -clinical validity and ecological effect
Robert Ramsperger, Stefan Meckler, Tanja Heger, et al.
Journal of Neurology
|
October 13, 2023
Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey
Michelangelo Mancuso, Piervito Lopriore, Costanza Lamperti, et al.
Psychotherapie, Psychosomatik, Medizinische Psychologie
|
July 6, 2022
[Quality of Life and Experienced Distress of Patients Suspected of having a Rare (Chronic) Health Condition - Initial Findings from the ZSE-DUO Study]
Stefanie Witt, Kaja Kristensen, Janika Blömeke, et al.
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of 9
Search research articles
Search
Showing results (31-40 of 85) with videos related to
Sort By:
Page
of 9
Frontiers in Health Services
|
June 15, 2026
Friedreich's ataxia patient pathway in Europe
Julie Vallortigara, Julie Greenfield, Barry Hunt, et al.
Journal of Neurology
|
October 6, 2022
Dystonia management across Europe within ERN-RND: current state and future challenges
Liesanne M Centen, David Pinter, Martje E van Egmond, et al.
European Journal of Human Genetics : EJHG
|
March 1, 2018
RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases
Hanns Lochmüller, Dorota M Badowska, Rachel Thompson, et al.
HGG Advances
|
December 12, 2025
A systematic assessment of large language models' knowledge of rare diseases: How much do large language models know about rare disease?
Tudor Groza, Allison J Marcello, Tristan Carlisle, et al.
American Journal of Human Genetics
|
May 26, 2026
Guidance on communication and informed consent with patients and their families for experimental individualized treatments
Annemieke Aartsma-Rus, Claudio M de Gusmao, Scott Demarest, et al.
Orphanet Journal of Rare Diseases
|
December 19, 2022
Rare disease education in Europe and beyond: time to act
Birute Tumiene, Harm Peters, Bela Melegh, et al.
European Journal of Human Genetics : EJHG
|
November 5, 2023
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report
David Lagorce, Emeline Lebreton, Leslie Matalonga, et al.
Parkinsonism & Related Disorders
|
March 9, 2016
Continuous leg dyskinesia assessment in Parkinson's disease -clinical validity and ecological effect
Robert Ramsperger, Stefan Meckler, Tanja Heger, et al.
Journal of Neurology
|
October 13, 2023
Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey
Michelangelo Mancuso, Piervito Lopriore, Costanza Lamperti, et al.
Psychotherapie, Psychosomatik, Medizinische Psychologie
|
July 6, 2022
[Quality of Life and Experienced Distress of Patients Suspected of having a Rare (Chronic) Health Condition - Initial Findings from the ZSE-DUO Study]
Stefanie Witt, Kaja Kristensen, Janika Blömeke, et al.
Page
of 9