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
Genotype-Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis.
Park E et al.
Kidney & Blood Pressure Research, 2018
Why is hypercalciuria absent at diagnosis in some children with ATP6V1B1 mutation?
Tsai HY et al.
Pediatric Nephrology (berlin, Germany), 2011
Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.
Vivante A et al.
Nephron. Physiology, 2011
Distal RTA with nerve deafness: clinical spectrum and mutational analysis in five children.
Gil H et al.
Pediatric Nephrology (berlin, Germany), 2007
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