Found: 25
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A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation.
- Published in:
- Human Genetics, 2023, v. 142, n. 8, p. 1077, doi. 10.1007/s00439-022-02506-0
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- Publication type:
- Article
Radiofrequency ablation in patients with large cervical heterotopic gastric mucosa and globus sensation: Closing the treatment gap.
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- Digestive Endoscopy, 2018, v. 30, n. 2, p. 212, doi. 10.1111/den.12959
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- Publication type:
- Article
A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia.
- Published in:
- Laryngoscope, 2010, v. 120, n. 2, p. 359, doi. 10.1002/lary.20689
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- Publication type:
- Article
Identification of a rare COCH mutation by whole-exome sequencing.
- Published in:
- Wiener Klinische Wochenschrift, 2018, v. 130, n. 9/10, p. 299, doi. 10.1007/s00508-017-1230-y
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- Publication type:
- Article
Delayed auditory pathway maturation and prematurity.
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- Wiener Klinische Wochenschrift, 2015, v. 127, n. 11/12, p. 440, doi. 10.1007/s00508-014-0653-y
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- Publication type:
- Article
Peaks in online inquiries into pharyngitis-related symptoms correspond with annual incidence rates.
- Published in:
- European Archives of Oto-Rhino-Laryngology, 2021, v. 278, n. 5, p. 1653, doi. 10.1007/s00405-020-06362-4
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- Publication type:
- Article
Winter peaks in web-based public inquiry into epistaxis.
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- European Archives of Oto-Rhino-Laryngology, 2020, v. 277, n. 7, p. 1977, doi. 10.1007/s00405-020-05915-x
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- Publication type:
- Article
Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation.
- Published in:
- European Archives of Oto-Rhino-Laryngology, 2017, v. 274, n. 10, p. 3619, doi. 10.1007/s00405-017-4699-0
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- Publication type:
- Article
The promoter mutation c.−259C>T (−3438C>T) is not a common cause of non-syndromic hearing impairment in Austria.
- Published in:
- European Archives of Oto-Rhino-Laryngology, 2015, v. 272, n. 1, p. 229, doi. 10.1007/s00405-014-3223-z
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- Publication type:
- Article
PRKCA Overexpression Is Frequent in Young Oral Tongue Squamous Cell Carcinoma Patients and Is Associated with Poor Prognosis.
- Published in:
- Cancers, 2021, v. 13, n. 9, p. 2082, doi. 10.3390/cancers13092082
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- Publication type:
- Article
Biannual Differences in Interest Peaks for Web Inquiries Into Ear Pain and Ear Drops: Infodemiology Study.
- Published in:
- 2021
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- Publication type:
- journal article
Plasma VEGF - a candidate biomarker for response to treatment with bevacizumab in HHT patients.
- Published in:
- Rhinology, 2020, v. 58, n. 1, p. 18, doi. 10.4193/Rhin19.018
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- Publication type:
- Article
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families.
- Published in:
- Genome Biology, 2011, v. 12, n. 9, p. 2, doi. 10.1186/gb-2011-12-9-r89
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- Publication type:
- Article
Impact of Sonic Hedgehog Pathway Expression on Outcome in HPV Negative Head and Neck Carcinoma Patients after Surgery and Adjuvant Radiotherapy.
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- PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0167665
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- Publication type:
- Article
Presentation Rates for Acute Pharyngitis in the Emergency Room Are Influenced by Extreme Weather Events.
- Published in:
- Otolaryngology-Head & Neck Surgery, 2024, v. 170, n. 3, p. 795, doi. 10.1002/ohn.581
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- Publication type:
- Article
Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria.
- Published in:
- European Archives of Oto-Rhino-Laryngology, 2024, v. 281, n. 7, p. 3577, doi. 10.1007/s00405-024-08492-5
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- Publication type:
- Article
A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation.
- Published in:
- Frontiers in Cellular Neuroscience, 2020, v. 14, p. N.PAG, doi. 10.3389/fncel.2020.585669
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- Publication type:
- Article
Effect of postoperative use of diclofenac on pharyngocutaneous fistula development after primary total laryngopharyngectomy: Results of a single-center retrospective study.
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- Head & Neck, 2016, v. 38, p. E1515, doi. 10.1002/hed.24271
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- Publication type:
- Article
Incomplete penetrance of a novel SDHD variation causing familial head and neck paraganglioma.
- Published in:
- Clinical Otolaryngology, 2021, v. 46, n. 5, p. 1044, doi. 10.1111/coa.13782
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- Publication type:
- Article
Lymph node ratio as a prognostic marker in advanced laryngeal and hypopharyngeal carcinoma after primary total laryngopharyngectomy.
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- Clinical Otolaryngology, 2020, v. 45, n. 1, p. 73, doi. 10.1111/coa.13468
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- Publication type:
- Article
Post‐laryngectomy adjuvant radiotherapy in patients with pharyngocutaneous fistulae: Treatment regimens, outcomes and complications in 67 patients.
- Published in:
- Clinical Otolaryngology, 2019, v. 44, n. 5, p. 810, doi. 10.1111/coa.13353
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- Publication type:
- Article
Dysregulation of ß‐catenin, WISP1 and TCF21 predicts disease‐specific survival and primary response against radio(chemo)therapy in patients with locally advanced squamous cell carcinomas of the head and neck.
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- Clinical Otolaryngology, 2019, v. 44, n. 3, p. 263, doi. 10.1111/coa.13281
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- Publication type:
- Article
Cytoplasmic Mislocalization of POU3 F4 Due to Novel Mutations Leads to Deafness in Humans and Mice.
- Published in:
- Human Mutation, 2013, v. 34, n. 8, p. 1102, doi. 10.1002/humu.22339
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- Publication type:
- Article
Epistaxis grading in Osler's disease: comparison of comprehensive scores with detailed bleeding diaries.
- Published in:
- International Forum of Allergy & Rhinology, 2017, v. 7, n. 3, p. 293, doi. 10.1002/alr.21867
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- Publication type:
- Article
A Novel Missense NDP Mutation [p.(Cys93Arg)] with a Manifesting Carrier in an Austrian Family with Norrie Disease.
- Published in:
- Audiology & Neurotology, 2014, v. 19, n. 3, p. 203, doi. 10.1159/000358866
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- Publication type:
- Article