Search Results1-20 of  20

  • Nagano China ID: 9000239193374

    Articles in CiNii:7

    • A群溶連菌感染症,劇症型溶血性レンサ球菌感染症 (特集 夏場に流行る感染症 : 予防と早期発見,看護のポイント) -- (夏場に流行る感染症とは何だろう?) (2016)
    • インドメタシン投与が有効であったSalt-losing tubulopathyの1例 (2014)
    • 症例報告 低身長を契機に診断に至ったGitelman症候群の2例 (2018)
  • Nagano China ID: 9000399182734

    Articles in CiNii:1

    • The utility of urinary CD80 as a diagnostic marker in patients with renal diseases (2018)
  • Nagano China ID: 9000399532551

    Articles in CiNii:1

    • Clinical and Genetic Characteristics in Patients With Gitelman Syndrome (2019)
  • Nagano China ID: 9000402502233

    Articles in CiNii:1

    • Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases (2018)
  • Nagano China ID: 9000402942259

    Articles in CiNii:1

    • Pair analysis and custom array CGH can detect a small copy number variation in COQ6 gene (2019)
  • Nagano China ID: 9000403324098

    Articles in CiNii:1

    • Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome (2019)
  • Nagano China ID: 9000404121809

    Articles in CiNii:1

    • Study protocol: multicenter double-blind, randomized, placebo-controlled trial of rituximab for the treatment of childhood-onset early-stage uncomplicated frequently relapsing or steroid-dependent nephrotic syndrome (JSKDC10 trial) (2019)
  • Nagano China ID: 9000404481322

    Articles in CiNii:1

    • Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay (2019)
  • Nagano China ID: 9000404821352

    Articles in CiNii:1

    • Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome (2019)
  • Nagano China ID: 9000408475292

    Articles in CiNii:1

    • Molecular mechanisms determining severity in patients with Pierson syndrome (2020)
  • Nagano China ID: 9000408805745

    Articles in CiNii:1

    • Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay (2019)
  • Nagano China ID: 9000408923302

    Articles in CiNii:1

    • Clinical and genetic variability of PAX2-related disorder in the Japanese population (2020)
  • Nagano China ID: 9000409175917

    Articles in CiNii:1

    • Study protocol : multicenter double-blind, randomized, placebo-controlled trial of rituximab for the treatment of childhood-onset early-stage uncomplicated frequently relapsing or steroid-dependent nephrotic syndrome (JSKDC10 trial) (2019)
  • Nagano China ID: 9000409179764

    Articles in CiNii:1

    • Inherited salt-losing tubulopathy: An old condition but a new category of tubulopathy (2020)
  • Nagano China ID: 9000409296455

    Articles in CiNii:1

    • Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome (2019)
  • Nagano China ID: 9000409848584

    Articles in CiNii:1

    • Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5 (2020)
  • Nagano China ID: 9000409848678

    Articles in CiNii:1

    • Clinical characteristics of HNF1B-related disorders in a Japanese population (2019)
  • Nagano China ID: 9000409998032

    Department of Pediatrics, Kobe University Graduate School of Medicine (2020 from CiNii)

    Articles in CiNii:1

    • Refractory Hypertension in Infantile-Onset Denys-Drash Syndrome (2020)
  • Nagano China ID: 9000410022870

    Articles in CiNii:1

    • Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assay (2020)
  • Nagano China ID: 9000410194239

    Articles in CiNii:1

    • Comprehensive genetic diagnosis of Japanese patients with severe proteinuria (2020)
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