Search Results - "mutation"

Somatic FGFR3 mutations in seborrheic keratosis and acanthosis nigricans of Chinese patients by Guiye Niu, Fangfang Bao, Jiabao You

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Identification of novel targetable mutations in metastatic anorectal melanoma by next-generation sequencing by Emily D. Cai, BA, Jinah Kim, MD, PhD

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A case of Aicardi-Goutières syndrome caused by TREX1 gene mutation by Zheng Chenhan, Shao Jun, Ding Yang, Yin Linliang, Gu Xiaowen, Ji Chunya, Deng Xuedong

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Mutation analysis of the LCE3B/LCE3C genes in Psoriasis by Soto Javier, Díaz Marta, Coto-Segura Pablo, Santos-Juanes Jorge, Coto Eliecer, Queiro Rubén, Alvarez Victoria

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Effects of FSGS-associated mutations on the stability and function of myosin-1 in fission yeast by Jing Bi, Robert T. Carroll, Michael L. James, Jessica L. Ouderkirk, Mira Krendel, Vladimir Sirotkin

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The Response to Oxidative Damage Correlates with Driver Mutations and Clinical Outcome in Patients with Myelofibrosis by Elena Genovese, Margherita Mirabile, Sebastiano Rontauroli, Stefano Sartini, Sebastian Fantini, Lara Tavernari, Monica Maccaferri, Paola Guglielmelli, Elisa Bianchi, Sandra Parenti, Chiara Carretta, Selene Mallia, Sara Castellano, Corrado Colasante, Manjola Balliu, Niccolò Bartalucci, Raffaele Palmieri, Tiziana Ottone, Barbara Mora, Leonardo Potenza, Francesco Passamonti, Maria Teresa Voso, Mario Luppi, Alessandro Maria Vannucchi, Enrico Tagliafico, Rossella Manfredini, on behalf of the Mynerva (MYeloid NEoplasms Research Venture AIRC)

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A case of familial X-linked thrombocytopenia with a novel gene mutation by Eu Kyoung Lee, Yeun-Joo Eem, Nack-Gyun Chung, Myung Shin Kim, Dae Chul Jeong

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Mutation in methionyl-tRNA synthetase 1 causing pulmonary alveolar proteinosis by Manoj Madhusudan, Tejaswi Chandra, J T Srikanta

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Genotype-phenotype correlation of WT1 mutation-related nephropathy in Chinese children by Huanru Chen, Miao Zhang, Jinai Lin, Jieyi Lu, Fazhan Zhong, Fu Zhong, Xia Gao, Xin Liao

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Recurrent pregnancy loss: can factor V Leiden mutations be a cause by R R N Reddy, Deepti Mutreja, Nikhil Moorchung, Indrayani Mukhopadhyay

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Vaccine-escape and OBI mutations at patients with chronic viral hepatitis B in Belarus by Vladimir Eremin, Elena Gasich, Alina Nemira

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A mutation in <it>CTSK </it>gene in an autosomal recessive pycnodysostosis family of Pakistani origin by Ahmad Wasim, Sheikh Sabeen, Naeem Muhammad

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A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia by Jiashen Shao, Sen Zhao, Zihui Yan, Lianlei Wang, Yuanqiang Zhang, Mao Lin, Chenxi Yu, Shengru Wang, Yuchen Niu, Xiaoxin Li, Guixing Qiu, Jianguo Zhang, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO), Zhihong Wu, Nan Wu

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Nonautoimmune congenital hyperthyroidism due to p.Asp633Glu mutation in the gene by Won Kyoung Cho, Moon-Bae Ahn, Woori Jang, Hyojin Chae, Myungshin Kim, Byung-Kyu Suh

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BAP1 Tumour Predisposition Syndrome: A New Mutation in One Family by Francesca Satolli, Maria Beatrice Giudice, Mariabeatrice Bertolani, Roberto Ricci, Torello Lotti, Alfredo Zucchi, Claudio Feliciani

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Divergent Phenotypes with Same CHRNE Mutation in Two Siblings with Congenital Myasthenic Syndrome by Ankith Naveen, Madhu S Pujar, Ranjitha Revankar, Shreya Rotti

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Should We Consider Mutation Analysis in Evaluating the Prolonged Jaundice of Newborn Infants? by Young Don Kim

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The biological function and clinical significance of SF3B1 mutations in cancer by Zhixia Zhou, Qi Gong, Yin Wang, Mengkun Li, Lu Wang, Hongfei Ding, Peifeng Li

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A novel nonsense mutation in CTSC causes Papillon-Lefèvre syndrome with uronephrosis by Haiyan Song

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Metastatic penile carcinoma associated with convergent gain-of-function mutations in NOTCH1 by Sabina Signoretti, Jon C. Aster

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