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exome sequencing and large scale analysis of electronic medical record linked biobank data identify candidate deafness genes
Original title: “Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.”
clinical and genetic characteristics of hypoparathyroidism deafness and renal dysplasia syndrome in a chronic kidney disease cohort
Original title: “Clinical and genetic characteristics of hypoparathyroidism, deafness, and renal dysplasia syndrome in a chronic kidney disease cohort.”
type location and zygosity of kcnj16 variants may determine the clinical severity of hypokalemia tubulopathy and deafness hktd
Original title: “Type, Location and Zygosity of KCNJ16 Variants May Determine the Clinical Severity of Hypokalemia Tubulopathy and Deafness (HkTD).”
cogan syndrome as a rare cause of deafness
Original title: “[Cogan syndrome as a rare cause of deafness].”
screening for maternally inherited diabetes and deafness in large cohorts of hearing impaired and diabetic patients
Original title: “Screening for Maternally Inherited Diabetes and Deafness in Large Cohorts of Hearing Impaired and Diabetic Patients.”