Publications by authors named "Emi Iwabuchi"

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Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.
Kohei Hamanaka, Atsushi Fujita, Satoko Miyatake, Kazuharu Misawa, Eriko Koshimizu, Emi Iwabuchi

NPJ Genom Med· August 2025

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Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations.
Kazuhiro Iwama, Masayuki Sasaki, Shinichi Hirabayashi, Chihiro Ohba, Emi Iwabuchi

J Hum Genet· June 2016

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