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Therapeutic Advances in Rare Disease
|
May 29, 2025
From roadmap to a sustainable end-to-end individualized therapy pathway
Anneliene H Jonker, Elena-Alexandra Tataru, David P Dimmock, et al.
The Lancet. Global Health
|
June 14, 2024
Global health for rare diseases through primary care
Gareth Baynam, Adam L Hartman, Mary Catherine V Letinturier, et al.
European Journal of Human Genetics : EJHG
|
June 2, 2021
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
Leslie Matalonga, Carles Hernández-Ferrer, Davide Piscia, et al.
Nature Reviews. Drug Discovery
|
November 4, 2024
The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap
Anneliene H Jonker, Elena-Alexandra Tataru, Holm Graessner, et al.
European Journal of Human Genetics : EJHG
|
August 16, 2021
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
Leslie Matalonga, Carles Hernández-Ferrer, Davide Piscia, et al.
European Journal of Neurology
|
October 24, 2024
Pharmacotherapy for behavioural manifestations in frontotemporal dementia: An expert consensus from the European Reference Network for Rare Neurological Diseases (ERN-RND)
Casper Wittebrood, Marina Boban, Annchiara Cagnin, et al.
BMC Neurology
|
June 11, 2015
Quantitative home-based assessment of Parkinson's symptoms: the SENSE-PARK feasibility and usability study
Joaquim J Ferreira, Catarina Godinho, Ana T Santos, et al.
Lab Animal
|
June 24, 2024
Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe)
Kornelia Ellwanger, Julie A Brill, Elke de Boer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 24, 2025
The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations
Maria Francesca Di Feo, Ida Paramonov, Leslie Matalonga Borrel, et al.
Orphanet Journal of Rare Diseases
|
April 25, 2023
Transition for adolescents with a rare disease: results of a nationwide German project
Corinna Grasemann, Jakob Höppner, Peter Burgard, et al.
Page
of 9
Search research articles
Search
Showing results (51-60 of 85) with videos related to
Sort By:
Page
of 9
Therapeutic Advances in Rare Disease
|
May 29, 2025
From roadmap to a sustainable end-to-end individualized therapy pathway
Anneliene H Jonker, Elena-Alexandra Tataru, David P Dimmock, et al.
The Lancet. Global Health
|
June 14, 2024
Global health for rare diseases through primary care
Gareth Baynam, Adam L Hartman, Mary Catherine V Letinturier, et al.
European Journal of Human Genetics : EJHG
|
June 2, 2021
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
Leslie Matalonga, Carles Hernández-Ferrer, Davide Piscia, et al.
Nature Reviews. Drug Discovery
|
November 4, 2024
The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap
Anneliene H Jonker, Elena-Alexandra Tataru, Holm Graessner, et al.
European Journal of Human Genetics : EJHG
|
August 16, 2021
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
Leslie Matalonga, Carles Hernández-Ferrer, Davide Piscia, et al.
European Journal of Neurology
|
October 24, 2024
Pharmacotherapy for behavioural manifestations in frontotemporal dementia: An expert consensus from the European Reference Network for Rare Neurological Diseases (ERN-RND)
Casper Wittebrood, Marina Boban, Annchiara Cagnin, et al.
BMC Neurology
|
June 11, 2015
Quantitative home-based assessment of Parkinson's symptoms: the SENSE-PARK feasibility and usability study
Joaquim J Ferreira, Catarina Godinho, Ana T Santos, et al.
Lab Animal
|
June 24, 2024
Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe)
Kornelia Ellwanger, Julie A Brill, Elke de Boer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 24, 2025
The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations
Maria Francesca Di Feo, Ida Paramonov, Leslie Matalonga Borrel, et al.
Orphanet Journal of Rare Diseases
|
April 25, 2023
Transition for adolescents with a rare disease: results of a nationwide German project
Corinna Grasemann, Jakob Höppner, Peter Burgard, et al.
Page
of 9