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Siblings with MAN1B1-CDG Showing Novel Biochemical Profiles by Nobuhiko Okamoto, Tatsuyuki Ohto, Takashi Enokizono, Yoshinao Wada, Tomohiro Kohmoto, Issei Imoto, Yoshimi Haga, Junichi Seino, Tadashi Suzuki
Published 2021-11-01
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Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: <i>SRD5A3</i>-Congenital Disorders of Glycosylation and <i>RP1</i>-Related Retinitis Pigmen... by Nobutaka Tachibana, Katsuhiro Hosono, Shuhei Nomura, Shinji Arai, Kaoruko Torii, Kentaro Kurata, Miho Sato, Shuichi Shimakawa, Noriyuki Azuma, Tsutomu Ogata, Yoshinao Wada, Nobuhiko Okamoto, Hirotomo Saitsu, Sachiko Nishina, Yoshihiro Hotta
Published 2022-02-01
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