Hidefumi Tonoki

Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis

Yasuhiro Indo, Motoko Tsuruta, Yumi Hayashida et al. · Nature Genetics · 1996 · 639 citations · Full text

Life Sciences, Genetics, Neuroscience +10

A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR

Takeo Kubota, Shigeaki Nonoyama, Hidefumi Tonoki et al. · Human Genetics · 1999 · 225 citations

Life Sciences, Genetics, Molecular Genetics +14

Spectrum of <i>MLL2</i> (<i>ALR</i>) mutations in 110 cases of Kabuki syndrome

Mark Hannibal, Kati J. Buckingham, Sarah Ng et al. · American Journal of Medical Genetics Part A · 2011 · 196 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Isolation of Differentiated Squamous and Undifferentiated Spindle Carcinoma Cell Lines with Differing Metastatic Potential from a 4‐Nitroquinoline N‐Oxide‐induced Tongue Carcinoma in a F344 Rat

Shinichi Takeuchi, Hayao Nakanishi, Kenji YOSHIDA et al. · Japanese Journal of Cancer Research · 2000 · 188 citations · Full text

Medicine, Cancer Biology, Oncology +9

<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