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TitleAuthors Date of Issue
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)Hayashi, Shin; Uehara, Daniela Tiaki; Tanimoto, Kousuke; Mizuno, Seiji; Chinen, Yasutsugu; Fukumura, Shinobu; Takanashi, Jun-ichi; Osaka, Hitoshi; Okamoto, Nobuhiko; Inazawa, Johji14-Jun-2018
Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3Chinen, Yasutsugu; Nakamura, Sadao; Ganaha, Akira; Hayashi, Shin; Inazawa, Johji; Yanagi, Kumiko; Nakanishi, Koichi; Kaname, Tadashi; Naritomi, KenjiFeb-2018

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