Chiba Children's Hospital

Top Publications

Top Publications Authored or Co-Authored in "Chiba Children's Hospital"

• The Cockayne Syndrome Natural History (CoSyNH) study: Clinical findings in 102 individuals and recommendations for care

  Genetics in Medicine, Volume 18, No. 5, Year 2016, Citations 128
• Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers

  Journal of Allergy and Clinical Immunology, Volume 134, No. 5, Year 2014, Citations 104
• Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

  American Journal of Human Genetics, Volume 103, No. 2, Year 2018, Citations 58
• MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

  EBioMedicine, Volume 30, Year 2018, Citations 47
• Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report

  Brain and Development, Volume 37, No. 7, Year 2015, Citations 16