Search Results - "mutation"

Identification of 3 novel <it>VHL</it> germ-line mutations in Danish VHL patients by Dandanell Mette, Friis-Hansen Lennart, Sunde Lone, Nielsen Finn C, Hansen Thomas

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Non-small-cell lung cancer: how to manage EGFR-mutated disease by Federica Pecci, Luca Cantini, Giulio Metro, Biagio Ricciuti, Giuseppe Lamberti, Ammad Ahmad Farooqi, Rossana Berardi

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Functional characteristics of circulating granulocytes in severe congenital neutropenia caused by ELANE mutations by Qiao Liu, Martina Sundqvist, Wenyan Li, André Holdfeldt, Liang Zhang, Lena Björkman, Johan Bylund, Claes Dahlgren, Cai Wang, Xiaodong Zhao, Huamei Forsman

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Co-Inheritance of Sickle Cell Trait and Thalassemia Mutations in South Central Iran by M Mohammadi-Anaie, N Saleh-Gohari

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A Case of Late-onset Hyperinsulinemic Hypoglycemia: HNF4A Mutation by Gülçin Arslan, Sezer Acar, Taha Reşid Özdemir, Özlem Nalbantoğlu, Özgür Kırbıyık, Özge Köprülü, Beyhan Özkaya, Behzat Özkan

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The Genomic and Structural Organization of SARS-CoV-2: A Mutational Perspective by Mohammad K. Parvez, Sakina Niyazi

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Congenital sideroblastic anemia with a novel variant of the PUS1 gene mutation by Priti Mehta, Arun Kumar

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Spectrum and clinical features of gene mutations in Chinese pediatric acute lymphoblastic leukemia by Diying Shen, Lixia Liu, Xiaojun Xu, Hua Song, Jingying Zhang, Weiqun Xu, Fenying Zhao, Juan Liang, Chan Liao, Yan Wang, Tian Xia, Chengcheng Wang, Feng Lou, Shanbo Cao, Jiayue Qin, Yongmin Tang

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The relevance of a suppressor of fused (SUFU) mutation in the diagnosis and treatment of Gorlin syndrome by Taylor Ogden, BS, Shauna Higgins, MD, David Elbaum, MD, Ashley Wysong, MD, MS

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Phenotypic Variability and Cutaneous Features in 2 Siblings with Fanconi Anaemia and FANCA Mutation by Noor Almaani, Heba Al-Lala, Laith Al-Showbaki, Dunia Aburizeg, Bilal Azab

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DGAT1 mutations leading to delayed chronic diarrhoea: a case report by Luojia Xu, Weizhong Gu, Youyou Luo, Jingan Lou, Jie Chen

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Mitochondrial DNA Mutations Induced by Carbon Ions Radiation: A Preliminary Study by Yong Chen, Haining Gao, Wenling Ye

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Clinical Features and Gene Mutation Analysis of Congenital Thrombotic Thrombocytopenic Purpura in Neonates by Jiali Wang, Li Zhao

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Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosis by Zheng Qiao-Juan, Qiao Kai, Chen Yan, Wu Jian-Jun, Sun Yi-Min, Wang Jin-Yang, Xiong Hui-Ling, Zhao Gui-xian, Wu Zhi-Ying

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Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects by Vincent Runtuwene, Mark van Eekelen, John Overvoorde, Holger Rehmann, Helger G. Yntema, Willy M. Nillesen, Arie van Haeringen, Ineke van der Burgt, Boudewijn Burgering, Jeroen den Hertog

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Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations by Qi Yang, Sheng Yi, Mengting Li, Bobo Xie, Jinsi Luo, Jin Wang, Xiuliang Rong, Qinle Zhang, Zailong Qin, Limei Hang, Shihan Feng, Xin Fan

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Novel homozygous silent mutation of ITGB3 gene caused Glanzmann thrombasthenia by Zhengrong Wang, Zhengrong Wang, Yuqing Xu, Yuqing Xu, Yixi Sun, Yixi Sun, Shuang Wang, Shuang Wang, Minyue Dong, Minyue Dong

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An uncommon case of POLE mutated uterine carcinosarcoma − complemented by a review of literature by C. Ebner, A. Frosch, K. Leitner, R. Soucek, C. Marth, AG. Zeimet

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Analysis of Common Beta-Thalassemia (β-Thalassemia) Mutations in East Java, Indonesia by Yetti Hernaningsih, Yuli Syafitri, Yulia Nadar Indrasari, Prafa Alif Rahmawan, Mia Ratwita Andarsini, Indra Lesmana, Emmanuel Jairaj Moses, Nur Arzuar Abdul Rahim, Narazah Mohd Yusoff, Narazah Mohd Yusoff

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Comparison and combination of mutation and methylation-based urine tests for bladder cancer detection by Naheema S. Gordon, Elspeth K. McGuigan, Michaela Ondasova, Jennifer Knight, Laura A. Baxter, Sascha Ott, Robert K. Hastings, Maurice P. Zeegers, Nicholas D. James, K. K. Cheng, Anshita Goel, Minghao Yu, Roland Arnold, Richard T. Bryan, Douglas G. Ward

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