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Orphanet Journal of Rare Diseases
|
February 12, 2024
Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases
Holm Graessner, Carola Reinhard, Tobias Bäumer, et al.
Orphanet Journal of Rare Diseases
|
April 14, 2026
European Reference Networks - a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 2025
Holm Graessner, Sophie Ripp, Alberto M Pereira, et al.
European Journal of Human Genetics : EJHG
|
August 13, 2021
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
Birte Zurek, Kornelia Ellwanger, Lisenka E L M Vissers, et al.
Orphanet Journal of Rare Diseases
|
August 14, 2020
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
Antonio Atalaia, Rachel Thompson, Alberto Corvo, et al.
Orphanet Journal of Rare Diseases
|
March 23, 2021
Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome
Antonio Atalaia, Rachel Thompson, Alberto Corvo, et al.
European Journal of Human Genetics : EJHG
|
June 2, 2021
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
Birte Zurek, Kornelia Ellwanger, Lisenka E L M Vissers, et al.
European Journal of Human Genetics : EJHG
|
May 16, 2022
Recommendations for whole genome sequencing in diagnostics for rare diseases
Erika Souche, Sergi Beltran, Erwin Brosens, et al.
European Journal of Neurology
|
March 23, 2022
European Academy of Neurology guidance for developing and reporting clinical practice guidelines on rare neurological diseases
Katina Aleksovska, Teia Kobulashvili, Joao Costa, et al.
Orphanet Journal of Rare Diseases
|
February 15, 2022
Dual guidance structure for evaluation of patients with unclear diagnosis in centers for rare diseases (ZSE-DUO): study protocol for a controlled multi-center cohort study
Helge Hebestreit, Cornelia Zeidler, Christopher Schippers, et al.
Gigascience
|
September 20, 2024
An interconnected data infrastructure to support large-scale rare disease research
Lennart F Johansson, Steve Laurie, Dylan Spalding, et al.
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of 9
Search research articles
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Showing results (61-70 of 85) with videos related to
Sort By:
Page
of 9
Orphanet Journal of Rare Diseases
|
February 12, 2024
Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases
Holm Graessner, Carola Reinhard, Tobias Bäumer, et al.
Orphanet Journal of Rare Diseases
|
April 14, 2026
European Reference Networks - a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 2025
Holm Graessner, Sophie Ripp, Alberto M Pereira, et al.
European Journal of Human Genetics : EJHG
|
August 13, 2021
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
Birte Zurek, Kornelia Ellwanger, Lisenka E L M Vissers, et al.
Orphanet Journal of Rare Diseases
|
August 14, 2020
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
Antonio Atalaia, Rachel Thompson, Alberto Corvo, et al.
Orphanet Journal of Rare Diseases
|
March 23, 2021
Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome
Antonio Atalaia, Rachel Thompson, Alberto Corvo, et al.
European Journal of Human Genetics : EJHG
|
June 2, 2021
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
Birte Zurek, Kornelia Ellwanger, Lisenka E L M Vissers, et al.
European Journal of Human Genetics : EJHG
|
May 16, 2022
Recommendations for whole genome sequencing in diagnostics for rare diseases
Erika Souche, Sergi Beltran, Erwin Brosens, et al.
European Journal of Neurology
|
March 23, 2022
European Academy of Neurology guidance for developing and reporting clinical practice guidelines on rare neurological diseases
Katina Aleksovska, Teia Kobulashvili, Joao Costa, et al.
Orphanet Journal of Rare Diseases
|
February 15, 2022
Dual guidance structure for evaluation of patients with unclear diagnosis in centers for rare diseases (ZSE-DUO): study protocol for a controlled multi-center cohort study
Helge Hebestreit, Cornelia Zeidler, Christopher Schippers, et al.
Gigascience
|
September 20, 2024
An interconnected data infrastructure to support large-scale rare disease research
Lennart F Johansson, Steve Laurie, Dylan Spalding, et al.
Page
of 9