Search Results - "Muskett, J A"
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Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes
Published in Journal of medical genetics (01-11-2011)“…Recessive mutant alleles of MYO7A, USH1C, CDH23, and PCDH15 cause non-syndromic deafness or type 1 Usher syndrome (USH1) characterised by deafness, vestibular…”
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Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes
Published in Journal of medical genetics (01-12-2009)“…Hearing loss with enlarged vestibular aqueduct (EVA) can be inherited as an autosomal recessive trait caused by bi-allelic mutations of SLC26A4. However, many…”
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Cone Responses in Usher Syndrome Types 1 and 2 by Microvolt Electroretinography
Published in Investigative ophthalmology & visual science (11-11-2015)Get full text
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Cervical Cytology [Summary]: The Evolution of a Community Screening Project
Published in Proceedings of the Royal Society of Medicine (01-09-1965)Get full text
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Cervical Cytology [Summary]
Published in Proceedings of the Royal Society of Medicine (01-09-1965)Get full text
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