Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 4 (of 4 Records) |
Query Trace: Klippel Feil Syndrome[original query] |
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A missense T (Brachyury) mutation contributes to vertebral malformations. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2008 Oct 23 (10): 1576-83. Ghebranious Nader, Blank Robert D, Raggio Cathleen L, Staubli Justin, McPherson Elizabeth, Ivacic Lynn, Rasmussen Kristen, Jacobsen F Stig, Faciszewski Thomas, Burmester James K, Pauli Richard M, Boachie-Adjei Oheneba, Glurich Ingrid, Giampietro Philip |
Comprehensive analysis of syndromic hearing loss patients in Japan. Scientific reports 2019 8 9 (1): 11976. Ideura Michie, Nishio Shin-Ya, Moteki Hideaki, Takumi Yutaka, Miyagawa Maiko, Sato Teruyuki, Kobayashi Yumiko, Ohyama Kenji, Oda Kiyoshi, Matsui Takamichi, Ito Tsukasa, Suzumura Hiroshi, Nagai Kyoko, Izumi Shuji, Nishiyama Nobuhiro, Komori Manabu, Kumakawa Kozo, Takeda Hidehiko, Kishimoto Yoko, Iwasaki Satoshi, Furutate Sakiko, Ishikawa Kotaro, Fujioka Masato, Nakanishi Hiroshi, Nakayama Jun, Horie Rie, Ohta Yumi, Naito Yasushi, Kakudo Mariko, Sakaguchi Hirofumi, Kataoka Yuko, Sugahara Kazuma, Hato Naohito, Nakagawa Takashi, Tsuchihashi Nana, Kanda Yukihiko, Kihara Chiharu, Tono Tetsuya, Miyanohara Ikuyo, Ganaha Akira, Usami Shin-Ic |
The mutational burden and oligogenic inheritance in Klippel-Feil syndrome. BMC musculoskeletal disorders 2020 Apr 21 (1): 220. Li Ziquan, Zhao Sen, Cai Siyi, Zhang Yuanqiang, Wang Lianlei, Niu Yuchen, Li Xiaoxin, Hu Jianhua, Chen Jingdan, Wang Shengru, Wang Huizi, Liu Gang, Tian Ye, Wu Zhihong, Zhang Terry Jianguo, , Wang Yipeng, Wu N |
[Clinical Characteristics and Genetic Analysis of Klippel-Feil Syndrome]. Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae 2021 3 43 (1): 25-31. Li Zi Quan, Geng Mo Zhao, Zhao Sen, Wu Zhi Hong, Zhang Jian Guo, Wu Nan, Wang Yi Pe |
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- Page last updated:May 20, 2024
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