Lehrstuhl für Humangenetik

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 Nanoparticles for the treatment of inflammatory conditions (2024) Janko C, Civelek M, Cicha I, Spielvogel H, Unterweger H, Alexiou C Journal article De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay (2024) Ha T, Morgan A, Bartos MN, Beatty K, Cogné B, Braun D, Gerber CB, et al. Journal article Increased PD-1 Expression on Circulating T Cells Correlates with Inferior Outcome after Autologous Stem Cell Transplantation (2024) Richter S, Böttcher M, Stoll A, Zeremski V, Völkl S, Mackensen A, Ekici AB, et al. Journal article Severe manifestation of Rauch-Azzarello syndrome associated with biallelic deletion of CTNND2 (2024) Pauly M, Krumbiegel M, Trumpp S, Braig S, Rupprecht T, Kraus C, Uebe S, et al. Journal article 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 Determinants Affecting the Clinical Implementation of a Molecularly Informed Molecular Tumor Board Recommendation: Experience from a Tertiary Cancer Center. (2023) Tögel L, Schubart C, Lettmaier S, Neufert C, Hoyer J, Wolff K, Moskalev E, et al. Journal article Impaired ATF3 signaling involves SNAP25 in SOD1 mutant ALS patients (2023) Yazar V, Kühlwein JK, Knehr A, Grozdanov V, Ekici AB, Ludolph AC, Danzer KM Journal article Different MAPT haplotypes influence expression of total MAPT in postmortem brain tissue (2023) Tauber CV, Schwarz SC, Rösler TW, Arzberger T, Gentleman S, Windl O, Krumbiegel M, et al. Journal article Analysis of genetically determined gene expression suggests role of inflammatory processes in exfoliation syndrome (2023) Hirbo JB, Pasutto F, Gamazon ER, Evans P, Pawar P, Berner D, Sealock J, et al. Journal article