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Dent disease: clinical practice recommendations. [PDF]
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Unraveling the cellular characteristics of cardiomyopathy with rare variant-driven gene signatures using multi-omics analysis. [PDF]
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Gene therapy of Dent disease type 1 in newborn ClC-5 null mice for sustained transgene expression and gene therapy effects. [PDF]
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Clinical characteristics of nephrocalcinosis in a tertiary children's hospital. [PDF]
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PRPF8 Mutation-Induced Defects in Human iPSC-Derived RPE Are Rescued by Adenine Base Editing. [PDF]
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Genetic screening in kidney transplant candidates. [PDF]
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An Extremely Low-Birth-Weight Infant With Bone Fragility Due to Fanconi Syndrome. [PDF]
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4-Phenylbutyric Acid Treatment Reduces Low-Molecular-Weight Proteinuria in a Clcn5 Knock-in Mouse Model for Dent Disease-1. [PDF]
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