Memorial lecture?hereditary sensory defects: From genes to pathogenesis
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference17 articles.
1. Intragenic Deletion of theKALIG-1Gene in Kallmann's Syndrome
2. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene
3. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
4. Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23
5. Structure of the X–linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome
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1. Whole exome sequencing of six Chinese families with hereditary non-syndromic hearing loss;International Journal of Pediatric Otorhinolaryngology;2021-09
2. Impact of genetic advances and testing for hearing loss: Results from a national consumer survey;American Journal of Medical Genetics Part A;2009-06
3. A focus group study of consumer attitudes toward genetic testing and newborn screening for deafness;Genetics in Medicine;2006-12
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