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H. Tonoki

American Journal of Medical Genetics. Part A, American journal of medical genetics, Human Genetics, Nature Genetics, European Journal of Human Genetics, Oncogene, Gastroenterology Show more
11
Role
Title
Level Year L/R
🐜 Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis
10 auth. Y. Indo, Motoko Tsuruta, Y. Hayashida, M. Karim, K. Ohta, T. Kawano, ... H. Mitsubuchi, H. Tonoki, Y. Awaya, I. Matsuda 		9 1996
9
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🐜 Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.
48 auth. N. Niikawa, Y. Kuroki, T. Kajii, N. Matsuura, S. Ishikiriyama, H. Tonoki, Nobuyoshi Ishikawa, Yutaka Yamada, M. Fujita, H. Umemoto, Y. Iwama, Ikuko Kondoh, Y. Fukushima, Y. Nako, I. Matsui, ... T. Urakami, S. Aritaki, M. Hara, Yasuyuki Suzuki, H. Chyo, Y. Sugio, T. Hasegawa, T. Yamanaka, R. Tsukino, Akira Yoshida, N. Nomoto, Satomi Kawahito, Ryozo Aihara, Shigeki Toyota, A. Ieshima, Hiromu Funaki, K. Ishitobi, S. Ogura, Toshiaki Furumae, M. Yoshino, Yoshiro Tsuji, T. Kondoh, Tadashi Matsumoto, K. Abe, N. Harada, T. Miike, S. Ohdo, K. Naritomi, A. K. Abushwereb, O. Braun, E. Schmid, J. M. Opitz, J. Reynolds 		8 1988
8
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🐜 Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
36 auth. M. Hannibal, K. Buckingham, Sarah B. H. Ng, J. Ming, A. Beck, M. McMillin, Heidi Gildersleeve, A. Bigham, H. Tabor, H. Mefford, Joseph Cook, K. Yoshiura, Tadashi Matsumoto, N. Matsumoto, N. Miyake, ... H. Tonoki, K. Naritomi, T. Kaname, T. Nagai, H. Ohashi, K. Kurosawa, J. Hou, T. Ohta, De-Hai Liang, A. Sudo, C. Morris, S. Banka, G. Black, J. Clayton-Smith, D. Nickerson, E. Zackai, T. Shaikh, D. Donnai, N. Niikawa, J. Shendure, M. Bamshad 		7 2011
7
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🐜 MLL2 and KDM6A mutations in patients with Kabuki syndrome
43 auth. N. Miyake, E. Koshimizu, N. Okamoto, S. Mizuno, T. Ogata, T. Nagai, T. Kosho, H. Ohashi, Mitsuhiro Kato, G. Sasaki, H. Mabe, Yoriko Watanabe, M. Yoshino, T. Matsuishi, J. Takanashi, ... V. Shotelersuk, M. Tekin, N. Ochi, M. Kubota, N. Ito, K. Ihara, T. Hara, H. Tonoki, T. Ohta, Kayoko Saito, M. Matsuo, M. Urano, T. Enokizono, Astushi Sato, Hiroyuki Tanaka, A. Ogawa, T. Fujita, Y. Hiraki, S. Kitanaka, Y. Matsubara, Toshio Makita, M. Taguri, M. Nakashima, Y. Tsurusaki, H. Saitsu, K. Yoshiura, N. Matsumoto, N. Niikawa 		7 2013
7
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🐜 A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR
9 auth. T. Kubota, S. Nonoyama, H. Tonoki, M. Masuno, K. Imaizumi, Makiko Kojima, ... K. Wakui, M. Shimadzu, Y. Fukushima 		7 1999
7
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🐜 Parental Imprinting of Human Chromosome Region 11p15.3-pter Involved in the Beckwith-Wiedemann Syndrome and Various Human Neoplasia
24 auth. M. Mannens, J. Hoovers, E. Redeker, M. Verjaal, A. P. Feinberg, P. Little, M. Boavida, N. Coad, M. Steenman, J. Bliek, ... N. Niikawa, H. Tonoki, Y. Nakamura, E. de Boer, R. Slater, R. John, J. Cowell, C. Junien, I. Henry, N. Tommerup, R. Weksberg, S. Pueschel, N. Leschot, A. Westerveld 		6 1994
6
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🐜 Cause of sudden, unexpected death of Prader–Willi syndrome patients with or without growth hormone treatment
11 auth. T. Nagai, Kazuo Obata, H. Tonoki, S. Temma, N. Murakami, Yasuki Katada, ... A. Yoshino, S. Sakazume, E. Takahashi, R. Sakuta, N. Niikawa 		6 2005
6
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🐜 High frequency of p53 mutations in human oral epithelial dysplasia and primary squamous cell carcinoma detected by yeast functional assay
8 auth. H. Kashiwazaki, H. Tonoki, M. Tada, I. Chiba, M. Shindoh, Y. Totsuka, ... R. Iggo, T. Moriuchi 		6 1997
6
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🐜 New p57KIP2 mutations in Beckwith-Wiedemann syndrome
15 auth. I. Hatada, A. Nabetani, H. Morisaki, Z. Xin, S. Ohishi, H. Tonoki, N. Niikawa, M. Inoue, Yosuke Komoto, A. Okada, ... E. Steichen, H. Ohashi, Y. Fukushima, M. Nakayama, T. Mukai 		6 1997
6
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🐜 Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3).
7 auth. S. Ishikiriyama, H. Tonoki, Yoshitaka Shibuya, Shinki Chin, N. Harada, K. Abe, ... N. Niikawa 		6 1989
6
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🐜 Identification of an autoimmune enteropathy-related 75-kilodalton antigen.
11 auth. I. Kobayashi, Keisaku Imamura, M. Kubota, S. Ishikawa, M. Yamada, H. Tonoki, ... M. Okano, W. Storch, T. Moriuchi, Y. Sakiyama, K. Kobayashi 		6 1999
6
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