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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. Among authors: schwarz nemec u. 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.
Rectal preparation significantly improves prostate imaging quality: Assessment of the PI-QUAL score with visual grading characteristics.
Arnoldner MA, Polanec SH, Lazar M, Noori Khadjavi S, Clauser P, Pötsch N, Schwarz-Nemec U, Korn S, Hübner N, Shariat SF, Helbich TH, Baltzer PAT. Arnoldner MA, et al. Among authors: schwarz nemec u. Eur J Radiol. 2022 Feb;147:110145. doi: 10.1016/j.ejrad.2021.110145. Epub 2022 Jan 3. Eur J Radiol. 2022. PMID: 35007983 Free article.
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