檢索結果 - Frohne, Alexandra

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  1. 1
    Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation

    Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation 由 Parzefall, Thomas, Frohne, Alexandra, Koenighofer, Martin, Kirchnawy, Andreas, Streubel, Berthold, Schoefer, Christian, Frei, Klemens, Lucas, Trevor

    出版 2017
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    Identification of a rare COCH mutation by whole-exome sequencing: Implications for personalized therapeutic rehabilitation in an Austrian family with non-syndromic autosomal dominant late-onset hearing loss

    Identification of a rare COCH mutation by whole-exome sequencing: Implications for personalized therapeutic rehabilitation in an Austrian family with non-syndromic autosomal domina... 由 Parzefall, Thomas, Frohne, Alexandra, Koenighofer, Martin, Kirchnawy, Andreas, Streubel, Berthold, Schoefer, Christian, Gstoettner, Wolfgang, Frei, Klemens, Lucas, Trevor

    出版 2017
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  3. 3
    Spectrum of Novel Hereditary Hemorrhagic Telangiectasia Variants in an Austrian Patient Cohort

    Spectrum of Novel Hereditary Hemorrhagic Telangiectasia Variants in an Austrian Patient Cohort 由 Koenighofer, Martin, Parzefall, Thomas, Frohne, Alexandra, Allen, Matthew, Unterberger, Ursula, Laccone, Franco, Schoefer, Christian, Frei, Klemens, Lucas, Trevor

    出版 2019
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    Incomplete penetrance of a novel SDHD variation causing familial head and neck paraganglioma

    Incomplete penetrance of a novel SDHD variation causing familial head and neck paraganglioma 由 Koenighofer, Martin, Parzefall, Thomas, Frohne, Alexandra, Frei, Elisabeth, Schoefer, Christian, Laccone, Franco, Feil, Patricia, Frei, Klemens, Lucas, Trevor

    出版 2021
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    PRKCA Overexpression Is Frequent in Young Oral Tongue Squamous Cell Carcinoma Patients and Is Associated with Poor Prognosis

    PRKCA Overexpression Is Frequent in Young Oral Tongue Squamous Cell Carcinoma Patients and Is Associated with Poor Prognosis 由 Parzefall, Thomas, Schnoell, Julia, Monschein, Laura, Foki, Elisabeth, Liu, David Tianxiang, Frohne, Alexandra, Grasl, Stefan, Pammer, Johannes, Lucas, Trevor, Kadletz, Lorenz, Brunner, Markus

    出版 2021
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    A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation

    A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation 由 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

    出版 2020
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