Takanori Yamagata

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Publications in SciGraph latest 50 shown

  • 2018-12 Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome in HUMAN GENOME VARIATION
  • 2018-11 A decreased soluble Klotho level with normal eGFR, FGF23, serum phosphate, and FEP in an ADPKD patient with enlarged kidneys due to multiple cysts in CEN CASE REPORTS
  • 2018-03-29 Pelizaeus-Merzbacher disease can be a differential diagnosis in males presenting with severe neonatal respiratory distress and hypotonia in HUMAN GENOME VARIATION
  • 2017-12 Role of a circadian-relevant gene NR1D1 in brain development: possible involvement in the pathophysiology of autism spectrum disorders in SCIENTIFIC REPORTS
  • 2016-10 Mesalazine allergy in a boy with ulcerative colitis: clinical usefulness of mucosal biopsy criteria in CLINICAL JOURNAL OF GASTROENTEROLOGY
  • 2016-03 Surges in proteinuria are associated with plasma GL-3 elevations in a young patient with classic Fabry disease in EUROPEAN JOURNAL OF PEDIATRICS
  • 2016-03 Morphological characterization of Class III phosphoinositide 3-kinase during mouse brain development in MEDICAL MOLECULAR MORPHOLOGY
  • 2016-01 Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-12 6q21–22 deletion syndrome with interrupted aortic arch in HUMAN GENOME VARIATION
  • 2015-12 The association of GPR85 with PSD-95-neuroligin complex and autism spectrum disorder: a molecular analysis in MOLECULAR AUTISM
  • 2015-05 A case of post-pneumococcal acute glomerulonephritis with glomerular depositions of nephritis-associated plasmin receptor in CEN CASE REPORTS
  • 2015-02 Apolipoprotein AII levels are associated with the UP/UCr levels in idiopathic steroid-sensitive nephrotic syndrome in CLINICAL AND EXPERIMENTAL NEPHROLOGY
  • 2015-02 Seasonal variation in first episode of childhood idiopathic steroid-sensitive nephrotic syndrome and adult minimal change nephrotic syndrome in CLINICAL AND EXPERIMENTAL NEPHROLOGY
  • 2013-11 An Xp22.12 microduplication including RPS6KA3 identified in a family with variably affected intellectual and behavioral disabilities in JOURNAL OF HUMAN GENETICS
  • 2012-12 A novel adult case of juvenile-onset Alexander disease: complete remission of neurological symptoms for over 12 years, despite insidiously progressive cervicomedullary atrophy in NEUROLOGICAL SCIENCES
  • 2012-04 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome in NATURE GENETICS
  • 2011-06-22 Foot Process Effacement with Normal Urinalysis in Classic Fabry Disease in JIMD REPORTS - CASE AND RESEARCH REPORTS, 2011/1
  • 2010-12 Th2 cells predominate in idiopathic steroid-sensitive nephrotic syndrome in CLINICAL AND EXPERIMENTAL NEPHROLOGY
  • 2005-07 Two New XPD Patients Compound Heterozygous for the Same Mutation Demonstrate Diverse Clinical Features in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 2000-10 Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10 in NATURE GENETICS
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