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Neurology
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August 22, 2024
Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases
Daphne H Schoenmakers, Sibren van den Berg, Lonneke Timmers, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 7, 2025
Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophy
Daphne H Schoenmakers, Marije A B C Asbreuk, Tamara Martin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 22, 2023
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
Anne-Sophie Denommé-Pichon, Leslie Matalonga, Elke de Boer, et al.
Genome Research
|
March 26, 2025
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
Wouter Steyaert, Lydia Sagath, German Demidov, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 15, 2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
Wouter Steyaert, Lydia Sagath, German Demidov, et al.
Frontiers in Public Health
|
June 26, 2026
European Reference Networks as core health structures where referring genetic newborn screening positive infants: an innovative operational research framework
Fernanda Fortunato, Rita Selvatici, Jan Kirschner, et al.
Human Mutation
|
February 18, 2022
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases
Steven Laurie, Davide Piscia, Leslie Matalonga, et al.
Nature Genetics
|
January 6, 2026
Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
Vicente A Yépez, German Demidov, Kornelia Ellwanger, et al.
Nature Genetics
|
September 9, 2025
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
Vicente A Yépez, German Demidov, Kornelia Ellwanger, et al.
International Journal of Stroke : Official Journal of the International Stroke Society
|
July 29, 2023
Penumbral Rescue by normobaric O = O administration in patients with ischemic stroke and target mismatch proFile (PROOF): Study protocol of a phase IIb trial
Sven Poli, Joshua Mbroh, Jean-Claude Baron, et al.
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Search research articles
Search
Showing results (71-80 of 85) with videos related to
Sort By:
Page
of 9
Neurology
|
August 22, 2024
Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases
Daphne H Schoenmakers, Sibren van den Berg, Lonneke Timmers, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 7, 2025
Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophy
Daphne H Schoenmakers, Marije A B C Asbreuk, Tamara Martin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 22, 2023
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
Anne-Sophie Denommé-Pichon, Leslie Matalonga, Elke de Boer, et al.
Genome Research
|
March 26, 2025
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
Wouter Steyaert, Lydia Sagath, German Demidov, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 15, 2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
Wouter Steyaert, Lydia Sagath, German Demidov, et al.
Frontiers in Public Health
|
June 26, 2026
European Reference Networks as core health structures where referring genetic newborn screening positive infants: an innovative operational research framework
Fernanda Fortunato, Rita Selvatici, Jan Kirschner, et al.
Human Mutation
|
February 18, 2022
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases
Steven Laurie, Davide Piscia, Leslie Matalonga, et al.
Nature Genetics
|
January 6, 2026
Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
Vicente A Yépez, German Demidov, Kornelia Ellwanger, et al.
Nature Genetics
|
September 9, 2025
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
Vicente A Yépez, German Demidov, Kornelia Ellwanger, et al.
International Journal of Stroke : Official Journal of the International Stroke Society
|
July 29, 2023
Penumbral Rescue by normobaric O = O administration in patients with ischemic stroke and target mismatch proFile (PROOF): Study protocol of a phase IIb trial
Sven Poli, Joshua Mbroh, Jean-Claude Baron, et al.
Page
of 9