תוצאות חיפוש - Hiroki Kurahashi

Incontinentia pigmenti inherited from a father with a low level atypical IKBKG deletion mosaicism: a case report מאת Miki Kawai, Atsuya Sugimoto, Yasunori Ishihara, Takema Kato, Hiroki Kurahashi

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Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report מאת Katsuyuki Yokoi, Yoko Nakajima, Hidehito Inagaki, Makiko Tsutsumi, Tetsuya Ito, Hiroki Kurahashi

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Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome מאת Masatake Toshimitsu, Shinichi Nagaoka, Shuusaku Kobori, Maki Ogawa, Fumihiko Suzuki, Takema Kato, Shunsuke Miyai, Rie Kawamura, Hidehito Inagaki, Hiroki Kurahashi, Jun Murotsuki

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Potential role for nectin-4 in the pathogenesis of pre-eclampsia: a molecular genetic study מאת Mayuko Ito, Haruki Nishizawa, Makiko Tsutsumi, Asuka Kato, Yoshiko Sakabe, Yoshiteru Noda, Akiko Ohwaki, Jun Miyazaki, Takema Kato, Kazuya Shiogama, Takao Sekiya, Hiroki Kurahashi, Takuma Fujii

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A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report מאת Makiko Tsutsumi, Hiroyoshi Hattori, Nobuhiro Akita, Naoko Maeda, Toshinobu Kubota, Keizo Horibe, Naoko Fujita, Miki Kawai, Yasuko Shinkai, Maki Kato, Takema Kato, Rie Kawamura, Fumihiko Suzuki, Hiroki Kurahashi

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