Search Results - "mutation"

An NRAS mutation in primary malignant melanoma of the lung: a case report by Takashi Hibiya, Meiro Tanaka, Mai Matsumura, Ayako Aoki, Tadashi Ikegami, Koji Okudela, Naomi Kawano, Kenichi Ohashi

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neb: a zebrafish model of nemaline myopathy due to nebulin mutation by William R. Telfer, Darcee D. Nelson, Trent Waugh, Susan V. Brooks, James J. Dowling

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Frameshift mutations of YPEL3 alter the sensory circuit function in Drosophila by Jung Hwan Kim, Monika Singh, Geng Pan, Adrian Lopez, Nicholas Zito, Benjamin Bosse, Bing Ye

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Campomelic Dysplasia with Sex Reversal Harboring a Novel Frameshift Mutation by Ha Na Lee, Chae Young Kim, Euiseok Jung, Beom Hee Lee, Byong Sop Lee, Ellen Ai Rhan Kim, Ki-Soo Kim

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An atypical case of Noonan syndrome with mutation diagnosed by targeted exome sequencing by Jinsup Kim, Sung Yoon Cho, Aram Yang, Ja-Hyun Jang, Youngbin Choi, Ji-Eun Lee, Dong-Kyu Jin

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Promising Response of Olaparib in Patient With Germline -Mutated Metastatic Gastric Cancer by Kok Hoe Chan MD, Darius Rutazanaa MD, Curtis Wray MD, Nirav Thosani MD, Victor Yang MD, Putao Cen MD

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CDKL5 Mutations in Boys With Encephalopathy and Early-Onset Intractable Epilepsy by J Gordon Millichap

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Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita by Benjaporn Panichareon, Thanawat Seedapan, Wanna Thongnoppakhun, Chanin Limwongse, Manop Pithukpakorn, Thawornchai Limjindaporn

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Malignant Brenner tumor associated with a germline BRCA2 mutation by Michael D. Toboni, Haller J. Smith, Sarah E. Dilley, Lea Novak, Charles A. Leath

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Prenatal diagnosis of ALPL gene mutations in recurrent fetal skeletal dysplasia by Shu-Han You, Chia-Lung Tsai, Chih-Peng Lin, Shuenn-Dyh Chang, Yao-Lung Chang

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Becker's Naevus Syndrome with Breast Aplasia Due to Postzygotic Mutation of ACTB by Jeanne Ramspacher, Virginie Carmignac, Pierre Vabres, Juliette Mazereeuw-Hautier

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Longitudinal study of HIV protease mutations in oral tissues of selected patients by Peter J. Hickman, Janet E. Leigh, Paul L. Fidel. Jr, Ronald B. Luftig

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Mutation screening of melatonin-related genes in patients with autism spectrum disorders by Thuresson Kent, Landén Mikael, Pedersen Christin, Bremer Anna, Ljunggren Elin, Jonsson Lina, Giacobini MaiBritt, Melke Jonas

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Early Onset West Syndrome with Hypomyelination, Coloboma and SPTAN1 Mutation by J Gordon Millichap

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Clinical Assessments and EEG Analyses of Encephalopathies Associated With Dynamin-1 Mutation by Hua Li, Fang Fang, Manting Xu, Zhimei Liu, Ji Zhou, Xiaohui Wang, Xiaofei Wang, Tongli Han

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Mosaicism in carrier of Duchenne muscular dystrophy mutation - Implication for prenatal diagnosis by Linh Thuy Dinh, Duc Hinh Nguyen, Long Hoang Luong, Phuong Thi Le, Tuan Pham Le-Anh, Dat Quoc Tran, Thinh Huy Tran, The-Hung Bui, Thanh Van Ta, Van Khanh Tran

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Congenital Myasthenic Syndrome Caused by a Novel Hemizygous CHAT Mutation by Yixia Zhang, Xinru Cheng, Chenghan Luo, Mengyuan Lei, Fengxia Mao, Zanyang Shi, Wenjun Cao, Jingdi Zhang, Qian Zhang

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Variable expressivity of <it>FGF3 </it>mutations associated with deafness and LAMM syndrome by Griffith Andrew J, Butman John A, Riazuddin Sheikh, Shaukat Uzma, Nasir Idrees, Khan Shaheen N, Hegde Rashmi S, Ahmed Zubair M, Riazuddin Saima, Friedman Thomas B, Choi Byung

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A genomic mutation spectrum of collecting duct carcinoma in the Chinese population by Huaru Zhang, Xiaojun Lu, Gang Huang, Meimian Hua, Wenhui Zhang, Tao Wang, Liqun Huang, Ziwei Wang, Qing Chen, Jing Li, Qing Yang, Guosheng Yang

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Case report: Gene mutations and clinical characteristics of four patients with osteopetrosis by Yu Chen, Yu Chen, Lina Zhou, Xianmin Guan, Xianhao Wen, Jie Yu, Ying Dou, Ying Dou

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