Yusuke Mitani

Prenatal clinical manifestations in individuals with <i>COL4A1/2</i> variants

Toshiyuki Itai, Satoko Miyatake, Masataka Taguri et al. · Journal of Medical Genetics · 2020 · 43 citations

Medicine, Genetics, Obstetrics +16

Pyridoxal 5′-phosphate and related metabolites in hypophosphatasia: Effects of enzyme replacement therapy

Tomoyuki Akiyama, Takuo Kubota, Keiichi Ozono et al. · Molecular Genetics and Metabolism · 2018 · 30 citations · Full text

Life Sciences, Biochemistry, Pharmacology +14

Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported

Yo Niida, Akiko Wakisaka, Takanori Tsuji et al. · Journal of Human Genetics · 2013 · 25 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

A girl with infantile neuronal ceroid lipofuscinosis caused by novel PPT1 mutation and paternal uniparental isodisomy of chromosome 1

Yo Niida, Ayano Yokoi, Mondo Kuroda et al. · Brain and Development · 2016 · 21 citations

Medicine, Genetics, Pediatrics +7

Catalytic Difluoromethylation of Alkenes with Difluoroacetic Anhydride: Reactivity of Fluorinated Diacyl Peroxides and Radicals

Takuma Tagami, Yusuke Mitani, Shintaro Kawamura et al. · Advanced Synthesis & Catalysis · 2023 · 16 citations · Full text

Natural Sciences, Chemistry, Medicinal Chemistry +11