Natsuko Arai‐Ichinoi

Temporal profile of the vascular anatomy evaluated by 9.4-T magnetic resonance angiography and histopathological analysis in mice lacking RNF213: A susceptibility gene for moyamoya disease

Shinya Sonobe, Miki Fujimura, Kuniyasu Niizuma et al. · Brain Research · 2014 · 124 citations

Life Sciences, Neurology, Neuroscience +17

Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing

Takao Togawa, Tokio Sugiura, Koichi Ito et al. · The Journal of Pediatrics · 2016 · 110 citations

Medicine, Genetics, Molecular Genetics +12

Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome

Naomi Hino‐Fukuyo, Atsuo Kikuchi, Natsuko Arai‐Ichinoi et al. · Human Genetics · 2015 · 62 citations

Life Sciences, Genetics, Molecular Genetics +16

Biallelic GALM pathogenic variants cause a novel type of galactosemia

Yoichi Wada, Atsuo Kikuchi, Natsuko Arai‐Ichinoi et al. · Genetics in Medicine · 2018 · 58 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13

Atsuo Kikuchi, Natsuko Arai‐Ichinoi, Osamu Sakamoto et al. · Molecular Genetics and Metabolism · 2012 · 52 citations

Life Sciences, Genetics, Molecular Genetics +11