Mari Urano

<i>MLL2</i> and <i>KDM6A</i> mutations in patients with Kabuki syndrome

Noriko Miyake, Eriko Koshimizu, Nobuhiko Okamoto et al. · American Journal of Medical Genetics Part A · 2013 · 179 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation

Akiko Seki, Taisuke Ishikawa, Xavier Daumy et al. · Journal of the American College of Cardiology · 2017 · 38 citations · Full text

Medicine, Cardiology, Electrophysiology +13

Epidemiological investigation of spinal muscular atrophy in Japan

M Ito, Akemi Yamauchi, Mari Urano et al. · Brain and Development · 2021 · 32 citations

Medicine, Neurology, Pathology +10

Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders

Yuri Kitamura, Eri Kondo, Mari Urano et al. · Journal of Human Genetics · 2016 · 25 citations

Life Sciences, Genetics, Neurology +17

Relationships between long-term observations of motor milestones and genotype analysis results in childhood-onset Japanese spinal muscular atrophy patients

Kaori Kaneko, Reiko Arakawa, Mari Urano et al. · Brain and Development · 2017 · 22 citations

Life Sciences, Genetics, Neurology +15