Takuya Naruto

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Publications in SciGraph latest 50 shown

  • 2019-12 Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I in HUMAN GENOME VARIATION
  • 2018-12 Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy in HUMAN GENOME VARIATION
  • 2018-12 Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction in HUMAN GENOME VARIATION
  • 2018-11 Familial total anomalous pulmonary venous return with 15q11.2 (BP1-BP2) microdeletion in JOURNAL OF HUMAN GENETICS
  • 2018-04-05 Primary microcephaly caused by novel compound heterozygous mutations in ASPM in HUMAN GENOME VARIATION
  • 2017-12 A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements in MOLECULAR CYTOGENETICS
  • 2017-08-17 Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis in HUMAN GENOME VARIATION
  • 2017-08-03 The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy diagnosed via POLD1 mutation detection in HUMAN GENOME VARIATION
  • 2017-06-08 A novel UBE2A mutation causes X-linked intellectual disability type Nascimento in HUMAN GENOME VARIATION
  • 2017-01-19 Genome-first approach diagnosed Cabezas syndrome via novel CUL4B mutation detection in HUMAN GENOME VARIATION
  • 2016-12 A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome in HUMAN GENOME VARIATION
  • 2016-12 Exome-first approach identified a novel gloss deletion associated with Lowe syndrome in HUMAN GENOME VARIATION
  • 2016-12 A novel missense mutation of COL5A2 in a patient with Ehlers–Danlos syndrome in HUMAN GENOME VARIATION
  • 2016-12 A novel frameshift mutation of CHD7 in a Japanese patient with CHARGE syndrome in HUMAN GENOME VARIATION
  • 2016-12 Novel human mutation and CRISPR/Cas genome-edited mice reveal the importance of C-terminal domain of MSX1 in tooth and palate development in SCIENTIFIC REPORTS
  • 2016-12 Detection of 1p36 deletion by clinical exome-first diagnostic approach in HUMAN GENOME VARIATION
  • 2015-12 A FRMD7 variant in a Japanese family causes congenital nystagmus in HUMAN GENOME VARIATION
  • 2015-12 A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome in HUMAN GENOME VARIATION
  • 2015-09 Deep intronic GPR143 mutation in a Japanese family with ocular albinism in SCIENTIFIC REPORTS
  • 2014-12 A novel PTCH1 mutation in a patient with Gorlin syndrome in HUMAN GENOME VARIATION
  • 2013-12 Influence of pre-hydration and pharmacogenetics on plasma methotrexate concentration and renal dysfunction following high-dose methotrexate therapy in INTERNATIONAL JOURNAL OF HEMATOLOGY
  • 2013-12 Flow cytometric chemosensitivity assay using JC-1, a sensor of mitochondrial transmembrane potential, in acute leukemia in CANCER CHEMOTHERAPY AND PHARMACOLOGY
  • 2011-03 Association of HLA-A*02:06 and HLA-DRB1*04:05 with clinical subtypes of juvenile idiopathic arthritis in JOURNAL OF HUMAN GENETICS
  • 2009-10 Suppressed neutrophil function in children with acute lymphoblastic leukemia in INTERNATIONAL JOURNAL OF HEMATOLOGY
  • 2009-06 The role of heme oxygenase-1 in systemic-onset juvenile idiopathic arthritis in MODERN RHEUMATOLOGY
  • 2009-02 Hyper-IgD syndrome with novel mutation in a Japanese girl in MODERN RHEUMATOLOGY
  • 2009-02 Improvement of reduced serum cartilage oligomeric matrix protein levels in systemic juvenile idiopathic arthritis patients treated with the anti-interleukin-6 receptor monoclonal antibody tocilizumab in MODERN RHEUMATOLOGY
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