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Author Kinoshita, Akira: 12    link image

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2019-11 A Mutation in PDGFRB in a Family with Infantile Myofibromatosis Ito, Nobuhiro; Watanabe, Satoshi; Mishima, Hiroyuki; Kinoshita, Akira; Okada, Masahiko; Moriuchi, Hiroyuki; Yoshiura, Koh-ichiro 100
2010-01-15 A type of familial cleft of the soft palate maps to 2p24.2–p24.1 or 2p21–p12 Tsuda, Masayoshi; Yamada, Takahiro; Mikoya, Tadashi; Sogabe, Izumi; Nakashima, Mitsuko; Minakami, Hisanori; Kishino, Tatsuya; Kinoshita, Akira; Niikawa, Norio; Hirano, Akiyoshi; Yoshiura, Koh-ichiro 712
2010-09 Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11: linkage analysis with clipped fingernail DNA on high-density SNP array. Oikawa, Masahiro; Kuniba, Hideo; Kondoh, Tatsuro; Kinoshita, Akira; Nagayasu, Takeshi; Niikawa, Norio; Yoshiura, Koh-ichiro 957
2005-05 Four Novel NIPBL Mutations in Japanese Patients With Cornelia de Lange Syndrome Miyake, Noriko; Harada, Naoki; Okamoto, Nobuhiko; Sonoda, Tohru; Naritomi, Kenji; Chinen, Yasutsugu; Kaname, Tadashi; Tonoki, Hidefumi; Kondoh, Tatsuro; Kurosawa, Kenji; Visser, Remco; Kinoshita, Akira; Yoshiura, Ko-ichiro; Niikawa, Norio; Matsumoto, Naomichi 2755
2019-02-22 Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome Shimizu, Hitomi; Watanabe, Satoshi; Kinoshita, Akira; Mishima, Hiroyuki; Nishimura, Gen; Moriuchi, Hiroyuki; Yoshiura, Koh-ichiro; Dateki, Sumito 117
2011-06-09 Intracystic Papillary Carcinoma of Breast Harbors Significant Genomic Alteration Compared with Intracystic Papilloma: Genome-wide Copy Number and LOH Analysis Using High-Density Single-Nucleotide Polymorphism Microarrays. Oikawa, Masahiro; Nagayasu, Takeshi; Yano, Hiroshi; Hayashi, Tomayoshi; Abe, Kuniko; Kinoshita, Akira; Yoshiura, Koh-Ichiro 827
2008-07 Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan. Kuniba, Hideo; Tsuda, Masayoshi; Nakashima, Mitsuko; Miura, Shoko; Miyake, Noriko; Kondoh, Tatsuro; Matsumoto, Tadashi; Moriuchi, Hiroyuki; Ohashi, Hirofumi; Kurosawa, Kenji; Tonoki, Hidefumi; Nagai, Toshiro; Okamoto, Nobuhiko; Kato, Mitsuhiro; Fukushima, Yoshimitsu; Naritomi, Kenji; Matsumoto, Naomichi; Kinoshita, Akira; Yoshiura, Koh-ichiro; Niikawa, Norio 1263
2009-05 Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome. Kuniba, Hideo; Yoshiura, Koh-Ichiro; Kondoh, Tatsuro; Ohashi, Hirofumi; Kurosawa, Kenji; Tonoki, Hidefumi; Nagai, Toshiro; Okamoto, Nobuhiko; Kato, Mitsuhiro; Fukushima, Yoshimitsu; Kaname, Tadashi; Naritomi, Kenji; Matsumoto, Tadashi; Moriuchi, Hiroyuki; Kishino, Tatsuya; Kinoshita, Akira; Miyake, Noriko; Matsumoto, Naomichi; Niikawa, Norio 2329
2012-05 Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair Nakazawa, Yuka; Sasaki, Kensaku; Mitsutake, Norisato; Matsuse, Michiko; Shimada, Mayuko; Nardo, Tiziana; Takahashi, Yoshito; Ohyama, Kaname; Ito, Kosei; Mishima, Hiroyuki; Nomura, Masayo; Kinoshita, Akira; Ono, Shinji; Takenaka, Katsuya; Masuyama, Ritsuko; Kudo, Takashi; Slor, Hanoch; Utani, Atsushi; Tateishi, Satoshi; Yamashita, Shunichi; Stefanini, Miria; Lehmann, Alan R; Yoshiura, Koh-ichiro; Ogi, Tomoo 1798
2019-04-19 Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities Morimoto, Yoshiro; Yoshida, Shintaro; Kinoshita, Akira; Satoh, Chisei; Mishima, Hiroyuki; Yamaguchi, Naohiro; Matsuda, Katsuya; Sakaguchi, Miako; Tanaka, Takeshi; Komohara, Yoshihiro; Imamura, Akira; Ozawa, Hiroki; Nakashima, Masahiro; Kurotaki, Naohiro; Kishino, Tatsuya; Yoshiura, Koh-ichiro; Ono, Shinji 214
2011-11 Pre-vaccination epidemiology of human papillomavirus infections in Japanese women with abnormal cytology. Yamasaki, Kentaro; Miura, Kiyonori; Shimada, Takako; Ikemoto, Rie; Miura, Shoko; Murakami, Makoto; Sameshima, Tetsuro; Fujishita, Akira; Kotera, Kouhei; Kinoshita, Akira; Yoshiura, Koh-Ichiro; Masuzaki, Hideaki 661
2016-10-22 Rapid growth of mitotically active cellular fibroma of the ovary: a case report and review of the literature Matsuda, Katsuya; Tateishi, Seiko; Akazawa, Yuko; Kinoshita, Akira; Yoshida, Shiko; Morisaki, Sachiko; Fukushima, Ai; Matsuwaki, Takahiro; Yoshiura, Koh-Ichiro; Nakashima, Masahiro 353

 

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