A. Frohne

发表

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

T. Parzefall, F. Laccone, K. Frei, 2021, Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery.

A novel proline substitution (Arg201Pro) in alpha helix 8 of TMEM98 causes autosomal dominant nanophthalmos-4, closed angle glaucoma and attenuated visual acuity.

S. Waldstein, G. Mitulović, T. Parzefall, 2021, Experimental eye research.

A Novel Mutation in SLC26A4 Causes Nonsyndromic Autosomal Recessive Hearing Impairment.

M. Allen, T. Parzefall, K. Frei, 2017, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

High Prevalence of MYO6 Variants in an Austrian Patient Cohort With Autosomal Dominant Hereditary Hearing Loss

W. Gstoettner, D. Liu, T. Parzefall, 2021, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

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

B. Streubel, T. Parzefall, K. Frei, 2017, European Archives of Oto-Rhino-Laryngology.

Identification of a rare COCH mutation by whole-exome sequencing

W. Gstoettner, B. Streubel, T. Parzefall, 2017, Wiener klinische Wochenschrift.

Identification of a rare COCH mutation by whole-exome sequencing

W. Gstoettner, B. Streubel, T. Parzefall, 2017, Wiener klinische Wochenschrift.

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

S. Nemec, K. Schmetterer, W. Pickl, 2022, Human Genetics.

Spectrum of Novel Hereditary Hemorrhagic Telangiectasia Variants in an Austrian Patient Cohort

M. Allen, U. Unterberger, T. Parzefall, 2019, Clinical and experimental otorhinolaryngology.

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

S. Amr, J. Waters, E. Ashton, 2020, Frontiers in Cellular Neuroscience.

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

J. Pammer, L. Monschein, D. Liu, 2020, medRxiv.

Novel PGM3 mutation in two siblings with combined immunodeficiency and childhood bullous pemphigoid: a case report and review of the literature

M. Keramatipour, Z. Chavoshzadeh, Anna Segarra-Roca, 2022, Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology.

The role of alternative GJB2 transcription in screening for neonatal sensorineural deafness in Austria

W. Baumgartner, W. Gstoettner, T. Parzefall, 2017, Acta oto-laryngologica.

A Novel Missense NDP Mutation [p.(Cys93Arg)] with a Manifesting Carrier in an Austrian Family with Norrie Disease

M. Hengstschläger, M. Ludwig, T. Parzefall, 2014, Audiology and Neurotology.

Evans syndrome caused by a deleterious mutation affecting the adaptor protein SASH3.

Sebastian K. Eder, W. Pickl, L. Kager, 2023, British journal of haematology.

Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial RIPK1 Deletion

Z. Kuloğlu, A. Kansu, A. Ikinciogullari, 2024, Journal of clinical immunology.

LTβR deficiency causes lymph node aplasia and impaired B cell differentiation.

S. Kubicek, M. Kraakman, Anna Segarra-Roca, 2024, Science immunology.