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Atypical hemolytic uremic syndromeHNF1beta/TCF2 mutations impair transactivation potential through altered co-regulator recruitmentRecessive mutations in DGKE cause atypical hemolytic-uremic syndromeClinical features of anti-factor H autoantibody-associated hemolytic uremic syndromeGenotype-phenotype correlations in non-Finnish congenital nephrotic syndromeHypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancyIn vivo expression of putative LMX1B targets in nail-patella syndrome kidneysMutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's diseaseMutations in components of complement influence the outcome of Factor I-associated atypical hemolytic uremic syndromePhenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome
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description
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Chantal Loirat
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Chantal Loirat
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Chantal Loirat
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Chantal Loirat
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