Search Results1-20 of  22

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  • NARUMI SATOSHI ID: 9000014220530

    Department of Pediatrics, Keio University School of Medicine （2008 from CiNii）

    Articles in CiNii:1

    • Mutation of a Gene for Thyroid Transcription Factor-1 (TITF1) in a Patient with Clinical Features of Resistance to Thyrotropin （2008）
  • NARUMI Satoshi ID: 9000002153626

    Department of Pediatrics, Kawasaki Municipal Hospital （2008 from CiNii）

    Articles in CiNii:1

    • Correspondence between computed tomography and endoscopy in Menetrier's disease （2008）
  • NARUMI Satoshi ID: 9000257802920

    Department of Pediatrics, Keio University School of Medicine （2008 from CiNii）

    Articles in CiNii:1

    • Mutation of a Gene for Thyroid Transcription Factor-1 (TITF1) in a Patient with Clinical Features of Resistance to Thyrotropin （2008）
  • NARUMI Satoshi ID: 9000265572242

    Department of Pediatrics, Keio University School of Medicine （2010 from CiNii）

    Articles in CiNii:1

    • One Novel and Two Recurrent THRB Mutations Associated with Resistance to Thyroid Hormone : Structure-based Computational Mutation Prediction （2010）
  • NARUMI Satoshi ID: 9000348582215

    Articles in CiNii:2

    • A Novel Mutation of Androgen Receptor Gene in Complete Androgen Insensitivity Syndrome （2007）
    • Growth Failure in an Infant with Congenital Nephrogenic Diabetes Insipidus During Sodium Restriction （2007）
  • NARUMI Satoshi ID: 9000399218968

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development （2018 from CiNii）

    Articles in CiNii:1

    • Association between <i>SAMD9</i>/<i>SAMD9L</i> and hematological malignancies （2018）
  • Narumi Satoshi ID: 9000283362947

    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan （2015 from CiNii）

    Articles in CiNii:1

    • Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous <i>PROKR2</i> mutation （2015）
  • Narumi Satoshi ID: 9000292181789

    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan （2015 from CiNii）

    Articles in CiNii:1

    • TSH resistance revisited [Review] （2015）
  • Narumi Satoshi ID: 9000314381434

    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan （2016 from CiNii）

    Articles in CiNii:1

    • A novel mutation of the THRB gene in a Japanese family with resistance to thyroid hormone （2016）
  • Narumi Satoshi ID: 9000321621997

    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan （2016 from CiNii）

    Articles in CiNii:1

    • A novel mutation in <i>HESX1</i> causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes （2016）
  • Narumi Satoshi ID: 9000345378538

    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan|Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan （2017 from CiNii）

    Articles in CiNii:1

    • A novel heterozygous intronic mutation in <i>POU1F1</i> is associated with combined pituitary hormone deficiency （2017）
  • Narumi Satoshi ID: 9000345429524

    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan （2016 from CiNii）

    Articles in CiNii:1

    • A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a <i>KLHL3</i> mutation （2016）
  • Narumi Satoshi ID: 9000365533485

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan （2017 from CiNii）

    Articles in CiNii:1

    • <i>SOX2</i> nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism （2017）
  • Narumi Satoshi ID: 9000365533515

    Department of Pediatrics, Keio University School of Medicine, Tokyo 160-8582, Japan|Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan （2017 from CiNii）

    Articles in CiNii:1

    • Homozygous <i>DUOXA2</i> mutation (p.Tyr138<sup>*</sup>) in a girl with congenital hypothyroidism and her apparently unaffected brother: Case report and review of the literature （2017）
  • Narumi Satoshi ID: 9000369351038

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan （2017 from CiNii）

    Articles in CiNii:1

    • Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature （2017）
  • Narumi Satoshi ID: 9000375896074

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan （2017 from CiNii）

    Articles in CiNii:1

    • Mild thyroid peroxidase deficiency caused by <i>TPO</i> mutations with residual activity: Correlation between clinical phenotypes and enzymatic activity （2017）
  • Narumi Satoshi ID: 9000397682061

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan （2018 from CiNii）

    Articles in CiNii:1

    • Identification of compound heterozygous <i>TSHR</i> mutations (R109Q and R450H) in a patient with nonclassic TSH resistance and functional characterization of the mutant receptors （2018）
  • Narumi Satoshi ID: 9000404667599

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan （2019 from CiNii）

    Articles in CiNii:1

    • MIRAGE syndrome with recurrent pneumonia probably associated with gastroesophageal reflux and achalasia: A case report （2019）
  • Narumi Satoshi ID: 9000408997778

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development （2019 from CiNii）

    Articles in CiNii:1

    • MIRAGE Syndrome: Discovery of a New Syndromic Form of Endocrine Dysfunction （2019）
  • Narumi Satoshi ID: 9000409599762

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan （2020 from CiNii）

    Articles in CiNii:1

    • A novel <i>NPR2</i> mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux （2020）
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