This page shows the publications Kevin Booth has written about Genetic Predisposition to Disease.
Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment. J Med Genet. 2018 08; 55(8):555-560.
Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss. Ophthalmic Genet. 2020 04; 41(2):151-158.
When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS). J Hum Genet. 2020 Jul; 65(7):609-617.
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. J Med Genet. 2015 Dec; 52(12):823-9.
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