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  • Rita Horvath, Elke Holinski-Feder, +19 authors Patrick F. Chinnery
  • Biology, Medicine
  • Movement disorders : official journal of the…
  • 2012 (First Published: 1 May 2012)
  • BACKGROUND Neurodegeneration with brain iron accumulation is clinically and genetically heterogeneous because of mutations in at least 7 nuclear genes. METHODS We performed homozygosity mapping andContinue Reading
  • Shazia Ashraf, Bethan E. Hoskins, +9 authors Friedhelm Hildebrandt
  • Biology, Medicine
  • Nephrology, dialysis, transplantation : official…
  • 2010 (First Published: 1 May 2010)
  • BACKGROUND Congenital anomalies of the kidney and urinary tract (CAKUT) account for the majority of end-stage renal disease in children (50%). Previous studies have mapped autosomal dominant loci forContinue Reading