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A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation.
Frohne A, Koenighofer M, Cetin H, Nieratschker M, Liu DT, Laccone F, Neesen J, Nemec SF, Schwarz-Nemec U, Schoefer C, Avraham KB, Frei K, Grabmeier-Pfistershammer K, Kratzer B, Schmetterer K, Pickl WF, Parzefall T. Frohne A, et al. Hum Genet. 2023 Aug;142(8):1077-1089. doi: 10.1007/s00439-022-02506-0. Epub 2022 Nov 29. Hum Genet. 2023. PMID: 36445457 Free PMC article.
Flow Cytometry-Based Measurement of Antibodies Specific for Cell Surface-Expressed Folded SARS-CoV-2 Receptor-Binding Domains.
Sehgal ANA, Safran J, Kratzer B, Gattinger P, Stieger RB, Musiejovsky L, Trapin D, Ettel P, Körmöczi U, Rottal A, Borochova K, Dorofeeva Y, Tulaeva I, Weber M, Grabmeier-Pfistershammer K, Perkmann T, Wiedermann U, Valenta R, Pickl WF. Sehgal ANA, et al. Among authors: grabmeier pfistershammer k. Vaccines (Basel). 2024 Apr 1;12(4):377. doi: 10.3390/vaccines12040377. Vaccines (Basel). 2024. PMID: 38675759 Free PMC article.
TIM-3 does not act as a receptor for galectin-9.
Leitner J, Rieger A, Pickl WF, Zlabinger G, Grabmeier-Pfistershammer K, Steinberger P. Leitner J, et al. PLoS Pathog. 2013 Mar;9(3):e1003253. doi: 10.1371/journal.ppat.1003253. Epub 2013 Mar 21. PLoS Pathog. 2013. PMID: 23555261 Free PMC article.
96 results