A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing. Am J Med Genet A. 2013 Jan;161A(1):145-52.Schrauwen I, Sommen M, Corneveaux JJ, Reiman RA, Hackett NJ, Claes C, et al. A sensitive and specific diagnostic...
Whole-genome sequencing, as a powerful diagnostic tool in hearing loss, reveals novel variants in PTPRQ missed by whole-exome sequencing Daniel Bengl, Asuman Koparir, Wahyu Eka Prastyo, Christian Remmele, Marcus Dittrich, Sophie Flandin, Waafa Shehata-Dieler, Clemens Grimm, Thomas ...
The Value of Personality Tests in Relation to Diagnostic Problems of Sensorineural Hearing LossPersonality tests can be of considerable aid in the diagnosis of problem cases presenting at a neurootological clinic. The personality profile of a patient can influence the way in which he responds to ...
Novel CRISPR/Cas12a-based genetic diagnostic approach for SLC26A4 mutation-related hereditary hearing loss Author links open overlay panelXiaohua Jin a b 1, Lu Zhang a b 1, Xinjie Wang c e, Lisha An a b, Shasha Huang d, Pu Dai d, Huafang Gao a b, Xu Ma a bShow more Add to ...
Congenital hearing loss affects approximately 1–2 infants out of every 1000, with 50% of the cases resulting from genetic factors. Targeted gene panels have been widely used for genetic diagnosis of hearing loss. This study aims to reveal new diagnoses via reanalyzing historical data of a multi...
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We chose to exclude two major groups of developmental disease—isolated hearing loss and isolated dental anomalies—which are planned to have their own G2P panels and (excepting composite phenotypes) are unlikely to present as undiagnosed developmental disorders. G2PCancer aims to identify Mendelian ...
Associated with non-syndromic progressive hearing loss.# 613453. [83], [84], [85], [86] SERPINB78710 Megsin unavailable Inhibitor of lysine-specific proteases; involved in megakaryocyte maturation and is increased in IgA nephropathy. Mutations cause palmoplantar keratoderma, Nagashima type; # 6155...
In cases of mild hearing loss, wherein the essential structures of the cochlea are intact and the hair cells are able to detect the mechanical vibration of the cochlea fluid and transfer this into a neural impulse detected by the brain as sound, hearing aids are commonly used. Such hearing ...
Described herein is a diagnostic chewing gum for identifying the presence of pathogens detectable via the mouth, in particular pathogens residing in nasal, oropharyngeal, laryngeal, oesophageal, ocular and/or pulmonal tissue of a user, more particularly pathogens selected from among a virus, bacterium...