نتایج جستجو برای: syndromic deafness

تعداد نتایج: 13200  

Journal: :International Journal of Otolaryngology and Head & Neck Surgery 2023

Introduction: Deafness, is the most common neurosensory deficit in humans. The origins can be diverse: congenital or acquired and sometimes of an etiology that difficult to specify. main risk social exclusion. advent cochlear implants a solution choice for severe profound sensorineural hearing loss. This innovative therapeutic modality new Cameroon, so we proposed evaluate preliminary results i...

Journal: :Journal of medical genetics 2004
S A Mohiddin Z M Ahmed A J Griffith D Tripodi T B Friedman L Fananapazir R J Morell

F amilial hypertrophic cardiomyopathy (FHC) is typically characterised by left ventricular hypertrophy, diastolic dysfunction, and hypercontractility, and is often associated with disabling symptoms, arrhythmias, and sudden death. FHC shows both non-allelic and allelic genetic heterogeneity, and results from any one of more than 100 mutations in genes encoding sarcomeric proteins. Identified ge...

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