A COL4A1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts by Ayane Yakabe, Tamaki Ikuse, Natsuki Ito, Hiromichi Yamada, Nobutomo Saito, Yuri Kitamura, Tomohiro Iwasaki, Mitsuru Ikeno, Hiroki Suganuma, Shinpei Abe, Nao Miyazaki, Ken Hisata, Hiromichi Shoji, Tomoyuki Nakazawa, Hidetaka Eguchi, Toshiaki Shimizu

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Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG) by Yohei Masunaga, Gen Nishimura, Koji Takahashi, Tomiyuki Hishiyama, Masatoshi Imamura, Kenichi Kashimada, Machiko Kadoya, Yoshinao Wada, Nobuhiko Okamoto, Daiju Oba, Hirofumi Ohashi, Mitsuru Ikeno, Yuko Sakamoto, Maki Fukami, Hirotomo Saitsu, Tsutomu Ogata

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A Case of Neonate with Split Cord Malformation Presenting with Hypoplasia of the Left Lower Extremity by Ryosuke Tanimoto, Tamaki Ikuse, Natsuki Ito, Hiroyuki Sato, Yuriha Kasai, Hiromichi Yamada, Nobutomo Saito, Tomohiro Iwasaki, Mitsuru Ikeno, Hiroki Suganuma, Ken Hisata, Hiromichi Shoji, Takahiro Kudo, Koichiro Sakamoto, Kazuaki Shimoji, Akihide Kondo, Toshiaki Shimizu

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