Publications by authors named "Evan de Joya"

Background: Mutations in TMPRSS3 are an important cause of autosomal recessive non-syndromic hearing loss. The hearing loss associated with mutations in TMPRSS3 is characterized by phenotypic heterogeneity, ranging from mild to profound hearing loss, and is generally progressive. Clinical presentation and natural history of TMPRSS3 mutations vary significantly based on the location and type of mutation in the gene.

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Multiple mitochondrial dysfunction syndrome type 3 (MMDS3) is a rare mitochondrial leukoencephalopathy caused by biallelic pathogenic variants in . Here, we describe a homozygous variant in , (NM_001010867.2): c.

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Hearing loss is the most common sensory disorder with ~466 million people worldwide affected, representing about 5% of the population. A substantial portion of hearing loss is genetic. Hearing loss can either be non-syndromic, if hearing loss is the only clinical manifestation, or syndromic, if the hearing loss is accompanied by a collage of other clinical manifestations.

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Purpose: In this study, we evaluated the risk behaviors that are drivers of the HIV epidemic among adolescent girls and young women in Zambia using a focus group research technique.

Subjects And Methods: Eighteen adolescent couples (n=18 females and 18 males) aged 16-24 participated in six focus groups discussions (3 per gender) convened at three health facilities in Lusaka, Zambia. Focus group moderators utilized a set of open-ended questions to guide the 60-minute sessions.

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