Koji Muroya

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Publications in SciGraph latest 50 shown

  • 2016-07 Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri–Weill dyschondrosteosis in JOURNAL OF HUMAN GENETICS
  • 2016-07 SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7 in NATURE GENETICS
  • 2016-01 Sporadic paraganglioma caused by de novo SDHB mutations in a 6-year-old girl in EUROPEAN JOURNAL OF PEDIATRICS
  • 2015-12 The ratio of serum free triiodothyronine to free thyroxine in children: a retrospective database survey of healthy short individuals and patients with severe thyroid hypoplasia or central hypothyroidism in THYROID RESEARCH
  • 2015-12 Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review in EUROPEAN JOURNAL OF PEDIATRICS
  • 2015-09 Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature in JOURNAL OF HUMAN GENETICS
  • 2014-06 Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities in JOURNAL OF HUMAN GENETICS
  • 2013-12 Classic Bartter syndrome complicated with profound growth hormone deficiency: a case report in JOURNAL OF MEDICAL CASE REPORTS
  • 2013-10 Classic Bartter syndrome complicated with profound growth hormone deficiency in INTERNATIONAL JOURNAL OF PEDIATRIC ENDOCRINOLOGY
  • 2013-10 Comprehensive genetic analyses of primary adrenal failure without enzymatic defects in INTERNATIONAL JOURNAL OF PEDIATRIC ENDOCRINOLOGY
  • 2010-06 Increased Na reabsorption via the Na–Cl cotransporter in autosomal recessive pseudohypoaldosteronism in CLINICAL AND EXPERIMENTAL NEPHROLOGY
  • 2009-06 Unfavorable lipoprotein profile in childhood cancer survivors with suprasellar brain tumors—a high Apo B level and increased small dense LDL-cholesterol in CHILD'S NERVOUS SYSTEM
  • 2004-07 The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia in PEDIATRIC NEPHROLOGY
  • 2001-10 Impaired urinary water excretion in a three-generation family in PEDIATRIC NEPHROLOGY
  • 2000-12 Genetic evidence for a novel gene(s) involved in urogenital development on 10q26 in KIDNEY INTERNATIONAL
  • 2000-11 Clinical and molecular studies in 15 females with ring X chromosomes: implications for r(X) formation and mental development in HUMAN GENETICS
  • 2000-03 Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features in HUMAN GENETICS
  • 1998-07 Microphthalmia with linear skin defects syndrome in a mosaic female infant with monosomy for the Xp22 region: molecular analysis of the Xp22 breakpoint and the X-inactivation pattern in HUMAN GENETICS
  • 1998-04 Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene in HUMAN GENETICS
  • 1997-05 Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome in NATURE GENETICS
  • 1995-05 Refinement of the locus for X-linked recessive chondrodysplasia punctata in HUMAN GENETICS
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