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Loop profile: 1119336

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Works (4)

A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation

Human Genetics
2023-08 | Journal article
DOI: 10.1007/s00439-022-02506-0
Contributors: Alexandra Frohne; Martin Koenighofer; Hakan Cetin; Michael Nieratschker; David T. Liu; Franco Laccone; Juergen Neesen; Stefan F. Nemec; Ursula Schwarz-Nemec; Christian Schoefer et al.
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Incomplete penetrance of a novel SDHD variation causing familial head and neck paraganglioma

Clinical Otolaryngology
2021-09 | Journal article
DOI: 10.1111/coa.13782
Contributors: Martin Koenighofer; Thomas Parzefall; Alexandra Frohne; Elisabeth Frei; Christian Schoefer; Franco Laccone; Patricia Feil; Klemens Frei; Trevor Lucas
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A novel proline substitution (Arg201Pro) in alpha helix 8 of TMEM98 causes autosomal dominant nanophthalmos-4, closed angle glaucoma and attenuated visual acuity

Experimental Eye Research
2021-04 | Journal article
DOI: 10.1016/j.exer.2021.108497
Contributors: Martin Koenighofer; Thomas Parzefall; Alexandra Frohne; Elisabeth Frei; Sebastian M. Waldstein; Goran Mitulovic; Christian Schoefer; Klemens Frei; Trevor Lucas
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Spectrum of Novel Hereditary Hemorrhagic Telangiectasia Variants in an Austrian Patient Cohort

Clinical and Experimental Otorhinolaryngology
2019-11-01 | Journal article
DOI: 10.21053/ceo.2019.00304
Contributors: Martin Koenighofer; Thomas Parzefall; Alexandra Frohne; Matthew Allen; Ursula Unterberger; Franco Laccone; Christian Schoefer; Klemens Frei; Trevor Lucas
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