Found: 13
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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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- Article
Evans syndrome caused by a deleterious mutation affecting the adaptor protein SASH3.
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- British Journal of Haematology, 2023, v. 203, n. 4, p. 678, doi. 10.1111/bjh.19061
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- 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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- Article
Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation.
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- European Archives of Oto-Rhino-Laryngology, 2017, v. 274, n. 10, p. 3619, doi. 10.1007/s00405-017-4699-0
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- Article
PRKCA Overexpression Is Frequent in Young Oral Tongue Squamous Cell Carcinoma Patients and Is Associated with Poor Prognosis.
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- Cancers, 2021, v. 13, n. 9, p. 2082, doi. 10.3390/cancers13092082
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- Article
Plasma VEGF - a candidate biomarker for response to treatment with bevacizumab in HHT patients.
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- Rhinology, 2020, v. 58, n. 1, p. 18, doi. 10.4193/Rhin19.018
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- Article
Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial RIPK1 Deletion.
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- Journal of Clinical Immunology, 2024, v. 44, n. 5, p. 1, doi. 10.1007/s10875-024-01707-8
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- Article
Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion.
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- Journal of Clinical Immunology, 2024, v. 44, n. 4, p. 1, doi. 10.1007/s10875-024-01682-0
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- Article
Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria.
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- European Archives of Oto-Rhino-Laryngology, 2024, v. 281, n. 7, p. 3577, doi. 10.1007/s00405-024-08492-5
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- Article
A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation.
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- Frontiers in Cellular Neuroscience, 2020, v. 14, p. N.PAG, doi. 10.3389/fncel.2020.585669
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- Article
Incomplete penetrance of a novel SDHD variation causing familial head and neck paraganglioma.
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- Clinical Otolaryngology, 2021, v. 46, n. 5, p. 1044, doi. 10.1111/coa.13782
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- Article
Novel PGM3 mutation in two siblings with combined immunodeficiency and childhood bullous pemphigoid: a case report and review of the literature.
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- Allergy, Asthma & Clinical Immunology, 2022, v. 18, n. 1, p. 1, doi. 10.1186/s13223-022-00749-0
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- Article
A Novel Missense NDP Mutation [p.(Cys93Arg)] with a Manifesting Carrier in an Austrian Family with Norrie Disease.
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- Audiology & Neurotology, 2014, v. 19, n. 3, p. 203, doi. 10.1159/000358866
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- Article