Výsledky vyhledávání - Frohne, Alexandra
- Zobrazuji výsledky 1 - 6 z 6
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Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation Autor Parzefall, Thomas, Frohne, Alexandra, Koenighofer, Martin, Kirchnawy, Andreas, Streubel, Berthold, Schoefer, Christian, Frei, Klemens, Lucas, Trevor
Vydáno 2017Text -
2
Identification of a rare COCH mutation by whole-exome sequencing: Implications for personalized therapeutic rehabilitation in an Austrian family with non-syndromic autosomal domina... Autor Parzefall, Thomas, Frohne, Alexandra, Koenighofer, Martin, Kirchnawy, Andreas, Streubel, Berthold, Schoefer, Christian, Gstoettner, Wolfgang, Frei, Klemens, Lucas, Trevor
Vydáno 2017Text -
3
Spectrum of Novel Hereditary Hemorrhagic Telangiectasia Variants in an Austrian Patient Cohort Autor Koenighofer, Martin, Parzefall, Thomas, Frohne, Alexandra, Allen, Matthew, Unterberger, Ursula, Laccone, Franco, Schoefer, Christian, Frei, Klemens, Lucas, Trevor
Vydáno 2019Text -
4
Incomplete penetrance of a novel SDHD variation causing familial head and neck paraganglioma Autor Koenighofer, Martin, Parzefall, Thomas, Frohne, Alexandra, Frei, Elisabeth, Schoefer, Christian, Laccone, Franco, Feil, Patricia, Frei, Klemens, Lucas, Trevor
Vydáno 2021Text -
5
PRKCA Overexpression Is Frequent in Young Oral Tongue Squamous Cell Carcinoma Patients and Is Associated with Poor Prognosis Autor Parzefall, Thomas, Schnoell, Julia, Monschein, Laura, Foki, Elisabeth, Liu, David Tianxiang, Frohne, Alexandra, Grasl, Stefan, Pammer, Johannes, Lucas, Trevor, Kadletz, Lorenz, Brunner, Markus
Vydáno 2021Text -
6
A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation Autor Parzefall, Thomas, Frohne, Alexandra, Koenighofer, Martin, Neesen, Juergen, Laccone, Franco, Eckl-Dorna, Julia, Waters, Jonathan J., Schreiner, Markus, Amr, Sami Samir, Ashton, Emma, Schoefer, Christian, Gstœttner, Wolfgang, Frei, Klemens, Lucas, Trevor
Vydáno 2020Text