United Kingdom (GB)

Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group (2022) Bakhuizen JJ, Hanson H, Van De Tuin K, Lalloo F, Tischkowitz M, Wadt K, Doergeloh BB, et al. Conference contribution Beyond founder and truncting variants in TECPR2-associated disorder (2022) Neuser S, Brechmann B, Heimer G, Brosse I, Schubert S, O'Grady L, Zech M, et al. Conference contribution EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum (2022) Hüffmeier U, Kraus C, Reuter M, Uebe S, Abbott MA, Ahmed SA, Rawson KL, et al. Conference contribution Budesonide orodispersible tablets for induction of remission in patients with active eosinophilic oesophagitis: A 6-week open-label trial of the EOS-2 Programme (2022) Miehlke S, Schlag C, Lucendo AJ, Biedermann L, Vaquero CS, Schmoecker C, Hayat J, et al. Journal article Common RUNX3 missense variant contributes to psoriatic arthritis by modifying differentiation of CD8(+) T-cells (2022) Kerker I, Löhr S, Uebe S, Popp B, Vasileiou G, Bowes J, Kirchner P, et al. Conference contribution A quantitative comparison of amplitude versus intensity interferometry for astronomy (2022) Bojer M, Huang Z, Karl S, Richter S, Kok P, von Zanthier J Journal article PREDICTORS OF LONGITUDINAL MRI-BASED CARTILAGE THICKNESS CHANGE IN THE OBSERVATIONAL MULTICENTER APPROACH COHORT (2022) Maschek S, Roemer F, Marijnissen AC, Jansen M, Wisser A, Lafeber F, Lalande A, et al. Conference contribution ASSOCIATIONS BETWEEN PREDICTED AND ACTUAL STRUCTURAL PROGRESSION IN THE APPROACH COHORT (2022) Jansen M, Wirth W, Roemer F, Bacardit J, Van Helvoort EM, Marijnissen AC, Kloppenburg M, et al. Conference contribution A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness (2022) Issler N, Afonso S, Weissman I, Jordan K, Cebrian-Serrano A, Meindl K, Dahlke E, et al. Journal article Paleozoic origins of cheilostome bryozoans and their parental care inferred by a new genome-skimmed phylogeny (2022) Orr RJ, Martino ED, Ramsfjell MH, Gordon DP, Berning B, Chowdhury I, Craig S, et al. Journal article