Search research articles
Contact Us
Filters
Showing results (21-30 of 85) with videos related to
Page
of 9
Sort By:
Orphanet Journal of Rare Diseases
|
December 8, 2023
Impact of specialist ataxia centres on health service resource utilisation and costs across Europe: cross-sectional survey
Stephen Morris, Julie Vallortigara, Julie Greenfield, et al.
Orphanet Journal of Rare Diseases
|
October 18, 2023
Patient pathways for rare diseases in Europe: ataxia as an example
Julie Vallortigara, Julie Greenfield, Barry Hunt, et al.
Heliyon
|
February 25, 2025
Comparison of specialist ataxia centres with non-specialist services in terms of care access and organisation, health services resource utilisation and costs in Germany using patient-reported data
Julie Vallortigara, Julie Greenfield, Barry Hunt, et al.
Journal of Community Genetics
|
March 18, 2021
European Reference Networks: challenges and opportunities
Birute Tumiene, Holm Graessner, Irene Mj Mathijssen, et al.
Nucleic Acid Therapeutics
|
September 30, 2021
Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives
Matthis Synofzik, Willeke M C van Roon-Mom, Georg Marckmann, et al.
European Journal of Human Genetics : EJHG
|
June 5, 2024
Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network
Aleš Maver, Katja Lohmann, Fran Borovečki, et al.
European Journal of Human Genetics : EJHG
|
May 31, 2024
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes
German Demidov, Steven Laurie, Annalaura Torella, et al.
European Journal of Human Genetics : EJHG
|
April 8, 2025
Correction: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes
German Demidov, Steven Laurie, Annalaura Torella, et al.
RNA (New York, N.Y.)
|
January 20, 2023
Development of tailored splice-switching oligonucleotides for progressive brain disorders in Europe: development, regulation, and implementation considerations
Annemieke Aartsma-Rus, Willeke van Roon-Mom, Marlen Lauffer, et al.
Journal of Parkinson'S Disease
|
January 16, 2015
Participatory design in Parkinson's research with focus on the symptomatic domains to be measured
J Artur Serrano, Frank Larsen, Tom Isaacs, et al.
Page
of 9
Search research articles
Search
Showing results (21-30 of 85) with videos related to
Sort By:
Page
of 9
Orphanet Journal of Rare Diseases
|
December 8, 2023
Impact of specialist ataxia centres on health service resource utilisation and costs across Europe: cross-sectional survey
Stephen Morris, Julie Vallortigara, Julie Greenfield, et al.
Orphanet Journal of Rare Diseases
|
October 18, 2023
Patient pathways for rare diseases in Europe: ataxia as an example
Julie Vallortigara, Julie Greenfield, Barry Hunt, et al.
Heliyon
|
February 25, 2025
Comparison of specialist ataxia centres with non-specialist services in terms of care access and organisation, health services resource utilisation and costs in Germany using patient-reported data
Julie Vallortigara, Julie Greenfield, Barry Hunt, et al.
Journal of Community Genetics
|
March 18, 2021
European Reference Networks: challenges and opportunities
Birute Tumiene, Holm Graessner, Irene Mj Mathijssen, et al.
Nucleic Acid Therapeutics
|
September 30, 2021
Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives
Matthis Synofzik, Willeke M C van Roon-Mom, Georg Marckmann, et al.
European Journal of Human Genetics : EJHG
|
June 5, 2024
Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network
Aleš Maver, Katja Lohmann, Fran Borovečki, et al.
European Journal of Human Genetics : EJHG
|
May 31, 2024
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes
German Demidov, Steven Laurie, Annalaura Torella, et al.
European Journal of Human Genetics : EJHG
|
April 8, 2025
Correction: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes
German Demidov, Steven Laurie, Annalaura Torella, et al.
RNA (New York, N.Y.)
|
January 20, 2023
Development of tailored splice-switching oligonucleotides for progressive brain disorders in Europe: development, regulation, and implementation considerations
Annemieke Aartsma-Rus, Willeke van Roon-Mom, Marlen Lauffer, et al.
Journal of Parkinson'S Disease
|
January 16, 2015
Participatory design in Parkinson's research with focus on the symptomatic domains to be measured
J Artur Serrano, Frank Larsen, Tom Isaacs, et al.
Page
of 9