Associated Papers
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Loop disorders: insights derived from defined genotypes.
Jeck N et al.
Nephron. Physiology, 2011
Gitelman's syndrome: towards genotype-phenotype correlations?
Riveira-Munoz E et al.
Pediatric Nephrology (berlin, Germany), 2007
A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IV.
Kitanaka S et al.
Pediatric Nephrology (berlin, Germany), 2006
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.
Birkenhäger R et al.
Nature Genetics, 2001
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