This page shows the publications Kevin Booth has written about Genotype.
A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations. Hum Genet. 2020 Oct; 139(10):1315-1323.
Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37. Genet Med. 2019 04; 21(4):948-954.
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.
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