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收藏Tenascin-X Deficiency Causing Classical-Like Ehlers-Danlos Syndrome Type 1 in Humans is a Significant Risk Factor of Gastrointestinal and Tracheal Ruptures
van Gurp, Jonneke E.; Lechner, Rosan L.; Micha, Dimitra; Maugeri, Alessandra; Dulfer, Eelco; van Dijk, Fleur S.; Keszthelyi, Daniel; Malfatti, Edoardo; Kubo, Akiharu; Voermans, Nicol C.; Demirdas, Serwet
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收藏Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis
Saito, Sonoko; Saito, Yuki; Sato, Showbu; Aoki, Satomi; Fujita, Harumi; Ito, Yoshihiro; Ono, Noriko; Funakoshi, Takeru; Kawai, Tomoko; Suzuki, Hisato; Sasaki, Takashi; Tanaka, Tomoyo; Inoie, Masukazu; Hata, Kenichiro; Kataoka, Keisuke; Kosaki, Kenjiro; Amagai, Masayuki; Nakabayashi, Kazuhiko; Kubo, Akiharu
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收藏Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants
Noda, Tatsuhiro; Takeichi, Takuya; Tanahashi, Kana; Ogawa, Yasushi; Takeuchi, So; Yoshikawa, Takenori; Toriyama, Erika; Ashida, Miwa; Imakado, Sumihisa; Tsuchihashi, Hitoshi; Okamoto, Takashi; Okuno, Yusuke; Ogi, Tomoo; Sugiura, Kazumitsu; Kubo, Akiharu; Muro, Yoshinao; Suga, Yasushi; Ishida-Yamamoto, Akemi; Akiyama, Masashi
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收藏Assessment of type I interferon signatures in undifferentiated inflammatory diseases: A Japanese multicenter experience
Miyamoto, Takayuki; Honda, Yoshitaka; Izawa, Kazushi; Kanazawa, Nobuo; Kadowaki, Saori; Ohnishi, Hidenori; Fujimoto, Masakazu; Kambe, Naotomo; Kase, Naoya; Shiba, Takeshi; Nakagishi, Yasuo; Akizuki, Shuji; Murakami, Kosaku; Bamba, Masahiro; Nishida, Yutaka; Inui, Ayano; Fujisawa, Tomoo; Nishida, Daisuke; Iwata, Naomi; Otsubo, Yoshikazu; Ishimori, Shingo; Nishikori, Momoko; Tanizawa, Kiminobu; Nakamura, Tomoyuki; Ueda, Takeshi; Ohwada, Yoko; Tsuyusaki, Yu; Shimizu, Masaki; Ebato, Takasuke; Iwao, Kousho; Kubo, Akiharu; Kawai, Toshinao; Matsubayashi, Tadashi; Miyazaki, Tatsuhiko; Kanayama, Tomohiro; Nishitani-Isa, Masahiko; Nihira, Hiroshi; Abe, Junya; Tanaka, Takayuki; Hiejima, Eitaro; Okada, Satoshi; Ohara, Osamu; Saito, Megumu K.; Takita, Junko; Nishikomori, Ryuta; Yasumi, Takahiro
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收藏Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)
Minatogawa, Mari; Unzaki, Ai; Morisaki, Hiroko; Syx, Delfien; Sonoda, Tohru; Janecke, Andreas R.; Slavotinek, Anne; Voermans, Nicol C.; Lacassie, Yves; Mendoza-Londono, Roberto; Wierenga, Klaas J.; Jayakar, Parul; Gahl, William A.; Tifft, Cynthia J.; Figuera, Luis E.; Hilhorst-Hofstee, Yvonne; Maugeri, Alessandra; Ishikawa, Ken; Kobayashi, Tomoko; Aoki, Yoko; Ohura, Toshihiro; Kawame, Hiroshi; Kono, Michihiro; Mochida, Kosuke; Tokorodani, Chiho; Kikkawa, Kiyoshi; Morisaki, Takayuki; Kobayashi, Tetsuyuki; Nakane, Takaya; Kubo, Akiharu; Ranells, Judith D.; Migita, Ohsuke; Sobey, Glenda; Kaur, Anupriya; Ishikawa, Masumi; Yamaguchi, Tomomi; Matsumoto, Naomichi; Malfait, Fransiska; Miyake, Noriko; Kosho, Tomoki
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收藏Neonatal Linear IgA Bullous Dermatosis Mediated by Breast Milk-Borne Maternal IgA
Egami, Shohei; Suzuki, Chihiro; Kurihara, Yuichi; Yamagami, Jun; Kubo, Akiharu; Funakoshi, Takeru; Nishie, Wataru; Matsumura, Kazuya; Matsushima, Takahiro; Kawaida, Miho; Sakamoto, Michiie; Amagai, Masayuki
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