Search Results1-20 of  20

  • Dateki Sumito ID: 9000251861627

    Articles in CiNii:1

    • Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities (2014)
  • Dateki Sumito ID: 9000329423163

    Articles in CiNii:1

    • Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri–Weill dyschondrosteosis (2016)
  • DATEKI Sumito ID: 9000002007879

    Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences (2007 from CiNii)

    Articles in CiNii:1

    • A Japanese patient with a mild Lenz-Majewski syndrome (2007)
  • DATEKI Sumito ID: 9000002129830

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development (2011 from CiNii)

    Articles in CiNii:2

    • Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Leri-Weill dyschondrosteosis (2008)
    • Identification of chromosome 15q26 terminal deletion with telomere sequences and its bearing on genotype-phenotype analysis (2011)
  • DATEKI Sumito ID: 9000016424075

    Department of Pediatrics, National Saga Hospital (2009 from CiNii)

    Articles in CiNii:1

    • Differential T-cell response in a young child and neonates with toxic shock syndrome (2009)
  • DATEKI Sumito ID: 9000255854575

    National Ureshino Hospital (2003 from CiNii)

    Articles in CiNii:1

    • A PATHOLOGICAL STUDY OF AN ATRIAL MYXOMA WITH IL-6 PRODUCTION AND COMPLICATED CEREBRAL ANEURYSMS WITH GP130 AND ICAM-1 EXPRESSION (2003)
  • DATEKI Sumito ID: 9000263058195

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development (2013 from CiNii)

    Articles in CiNii:1

    • Submicroscopic deletion involving fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency (2013)
  • Dateki Sumito ID: 9000240260897

    Articles in CiNii:1

    • SLC25A13 Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China (2013)
  • Dateki Sumito ID: 9000250763954

    Articles in CiNii:10

    • 線維性骨異形成症による視神経管狭窄をきたした McCune-Albright 症候群の1例 : パミドロネート治療の試み (2004)
    • Clinical and molecular analyses of heterozygous OTX2 mutations (2009)
    • A Japanese Boy with Glutaric Acidemia Type 1 : Possible Limitation of Acylcarnitine Analysis Alone during the Acute Phase (2015)
  • Dateki Sumito ID: 9000345337313

    Department of Pediatrics, Nagasaki University, Graduate School of Biomedical Sciences, Nagasaki, Japan (2017 from CiNii)

    Articles in CiNii:1

    • A case of sitosterolemia due to compound heterozygous mutations in <i>ABCG5</i>: clinical features and treatment outcomes obtained with colestimide and ezetimibe (2017)
  • Dateki Sumito ID: 9000350547755

    Department of Pediatrics, Nagasaki University Hospital (2017 from CiNii)

    Articles in CiNii:1

    • Ictal arterial spin labeling MRI findings in two cases of acute confusional migraine (2017)
  • Dateki Sumito ID: 9000361320448

    Articles in CiNii:1

    • Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation (2017)
  • Dateki Sumito ID: 9000361698135

    Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan (2017 from CiNii)

    Articles in CiNii:1

    • <i>ACAN</i> mutations as a cause of familial short stature (2017)
  • Dateki Sumito ID: 9000369351046

    Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki 852-8501, Japan (2017 from CiNii)

    Articles in CiNii:1

    • Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature (2017)
  • Dateki Sumito ID: 9000369353694

    Articles in CiNii:1

    • Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver–Russell syndrome (2017)
  • Dateki Sumito ID: 9000377395430

    Department of Pediatrics, Nagasaki University Hospital (2017 from CiNii)

    Articles in CiNii:1

    • Accumulation of three pediatric cases of acute flaccid myelitis in autumn 2015 in Nagasaki, Japan (2017)
  • Dateki Sumito ID: 9000402093766

    Articles in CiNii:1

    • Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome (2019)
  • Dateki Sumito ID: 9000402093775

    Articles in CiNii:1

    • A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency (2019)
  • Dateki Sumito ID: 9000402231601

    Articles in CiNii:1

    • A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome (2018)
  • Dateki Sumito ID: 9000402249766

    Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki 852-8501, Japan (2019 from CiNii)

    Articles in CiNii:1

    • Language delay and developmental catch-up would be a clinical feature of pseudohypoparathyroidism type 1A during childhood (2019)
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