apl. Prof. Dr. Ulrike Hüffmeier

Medizinische Fakultät

P2RX7 gene variants associate with altered inflammasome assembly and reduced pyroptosis in chronic nonbacterial osteomyelitis (CNO). (2024) Charras A, Hofmann SR, Cox A, Schulze F, Russ S, Northey S, Liu X, et al. Journal article Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder (2024) Albuainain F, Shi Y, Lor-Zade S, Hüffmeier U, Pauly M, Reis A, Faivre L, et al. Journal article The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants (2024) Furia F, Levy AM, Theunis M, Bamshad MJ, Bartos MN, Bijlsma EK, Brancati F, et al. Journal article VEXAS-Syndrom, eine neu beschriebene autoinflammatorische Systemerkrankung mit dermatologischen Manifestationen (2023) Baur V, Stoevesandt J, Hueber A, Hüffmeier U, Kneitz H, Morbach H, Schultz E, Goebeler M Journal article, Review article Genetic underpinnings of the psoriatic spectrum (2023) Hüffmeier U, Klima J, Hayatu MD Journal article Expanding the phenotype of 12q21 deletions: A role of BTG1 in speech development? (2023) Blum K, Krumbiegel M, Kraus C, Reis A, Hüffmeier U Journal article VEXAS syndrome mimicking lupus-like disease (2023) Valor-Mendez L, Sticherling M, Zeschick M, Atreya R, Schmidt D, Waldfahrer F, Saake M, et al. Journal article, Letter VEXAS-Syndrome, a newly described autoinflammatory systemic disease with dermatologic manifestations (2023) Baur V, Stoevesandt J, Hueber A, Hüffmeier U, Kneitz H, Morbach H, Schultz E, Goebeler M Journal article, Review article Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay (2023) Rieger M, Moutton S, Verheyen S, Steindl K, Popp B, Leheup B, Bonnet C, et al. Journal article 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