Takao Togawa

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 · 109 citations

Hepatology, Biliary Tract, Medicine +10

Clinical, Pathologic, and Genetic Features of Neonatal Dubin-Johnson Syndrome: A Multicenter Study in Japan

Takao Togawa, Tatsuki Mizuochi, Tokio Sugiura et al. · The Journal of Pediatrics · 2018 · 47 citations

Developmental Anomaly, Genetic Disorder, Genetics +10

A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly

Yutaka Negishi, Fuyuki Miya, Ayako Hattori et al. · BMC Medical Genetics · 2017 · 27 citations · Full text

Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum

Y. Nakamura, Yasuko Togawa, Yusuke Okuno et al. · Brain and Development · 2017 · 26 citations

Developmental Anomaly, Biallelic Mutations, Developmental Biology +8

Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism

Kohei Aoyama, Haruo Mizuno, Tatsushi Tanaka et al. · Journal of Pediatric Endocrinology and Metabolism · 2017 · 22 citations