Kazuhiro Ogata

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Publications in SciGraph latest 50 shown

  • 2021-11-15 Structural basis of the regulation of the normal and oncogenic methylation of nucleosomal histone H3 Lys36 by NSD2 in NATURE COMMUNICATIONS
  • 2021-11-01 Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms in JOURNAL OF HUMAN GENETICS
  • 2021-06-18 Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder in NATURE COMMUNICATIONS
  • 2020-08-24 Ribosomal synthesis and de novo discovery of bioactive foldamer peptides containing cyclic β-amino acids in NATURE CHEMISTRY
  • 2020-01-31 A novel PAK1 variant causative of neurodevelopmental disorder with postnatal macrocephaly in JOURNAL OF HUMAN GENETICS
  • 2018-02-13 A homozygous NOP14 variant is likely to cause recurrent pregnancy loss in JOURNAL OF HUMAN GENETICS
  • 2017-12-05 A novel mutation in SLC1A3 causes episodic ataxia in JOURNAL OF HUMAN GENETICS
  • 2017-02-16 Erratum: PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder in JOURNAL OF HUMAN GENETICS
  • 2017-01-16 Biallelic Mutations in the 3’ Exonuclease TOE1 Cause Pontocerebellar Hypoplasia and Uncover a Role in snRNA Processing in NATURE GENETICS
  • 2017-01-12 PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder in JOURNAL OF HUMAN GENETICS
  • 2016-10-13 Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation in HUMAN GENOME VARIATION
  • 2015-06-25 Novel compound heterozygous LIAS mutations cause glycine encephalopathy in JOURNAL OF HUMAN GENETICS
  • 2015-05-13 Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-04-23 Short-lasting unilateral neuralgiform headache attacks with ispilateral facial flushing is a new variant of paroxysmal extreme pain disorder in THE JOURNAL OF HEADACHE AND PAIN
  • 2014-11-24 Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation in SCIENTIFIC REPORTS
  • 2014-06-02 De novo SOX11 mutations cause Coffin–Siris syndrome in NATURE COMMUNICATIONS
  • 2013-10-08 A hemizygous GYG2 mutation and Leigh syndrome: a possible link? in HUMAN GENETICS
  • 2013-04-04 Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia in JOURNAL OF HUMAN GENETICS
  • 2012-03-18 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome in NATURE GENETICS
  • 2012-02-02 Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features in JOURNAL OF HUMAN GENETICS
  • 2008-05-11 De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy in NATURE GENETICS
  • 1996-02 The cavity in the hydrophobic core of Myb DNA-binding domain is reserved for DNA recognition and trans-activation in NATURE STRUCTURAL & MOLECULAR BIOLOGY
  • 1996 Structure and Function of the Proteins Encoded by the myb Gene Family in MOLECULAR ASPECTS OF MYELOID STEM CELL DEVELOPMENT
  • 1995-11 Determination of the NMR solution structure of a specific DNA complex of the Myb DNA-binding domain in JOURNAL OF BIOMOLECULAR NMR
  • 1995-04-01 Comparison of the free and DNA-complexed forms of the DMA-binding domain from c-Myb in NATURE STRUCTURAL & MOLECULAR BIOLOGY
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