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Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)2020 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Thomas Eggermann, Miriam Elbracht, Ingo Kurth, Anders Juul, Trine Holm Johannsen, Irène Netchine, +88 more
28citations -
Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata2021 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Tarik Luisman, Tara M. Smith, Shawn A. Ritchie, Karen E. Malone
16citations -
European Reference Networks – a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 20252026 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Holm Graeßner, Sophie Ripp, Alberto M. Pereira, Franz S. Schaefer, Irene M.J. Mathijssen, Jean‐Yves Blay, +21 more
9citations -
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 study2022 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Helge U. Hebestreit, Cornelia Zeidler, Christopher Schippers, Martina de Zwaan, Jürgen Deckert, Peter Ulrich Heuschmann, +86 more
6citations -
Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases2024 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Holm Graeßner, Carola Reinhard, Tobias Bäumer, Annette Baumgärtner, Knut Brockmann, Norbert Brüggemann, +25 more
4citations -
Functional characterization of two DYRK1B variants causative of AOMS32024 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Silvia Detro‐Dassen, Anna R. Sternberg, Katharina Schwandt, Stefan Düsterhöft, Walter B. Becker
2citations -
Management of patients with rare diseases in the Middle East: challenges & opportunities – insights from the Rare Advocacy Council2026 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Agnès Farrugia, Ahmed Bahey, Ahmad Tarawah, Arwa Al Yamani, Carla Abou Selwan, Dania Mohty, +11 more
0citations
7 results