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Mutation

An Amino Acid Substitution (L925V) Associated with Resistance to Pyrethroids in Varroa destructor

Joel González-Cabrera, T. G. Emyr Davies, Linda M. Field, Peter J. Kennedy, Martin S. Williamson

published 18 Dec 2013

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Structure-Based Analysis of A19D, a Variant of Transthyretin Involved in Familial Amyloid Cardiomyopathy

Priscila Ferreira, Oliveira Sant’Anna, Nathalia Varejão, Cinthia Lima, Shenia Novis, Renata V. Barbosa, Concy M. Caldeira, Franklin D. Rumjanek, Salvador Ventura, Marcia W. Cruz, Debora Foguel

published 17 Dec 2013

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SoftSearch: Integration of Multiple Sequence Features to Identify Breakpoints of Structural Variations

Steven N. Hart, Vivekananda Sarangi, Raymond Moore, Saurabh Baheti, Jaysheel D. Bhavsar, Fergus J. Couch, Jean-Pierre A. Kocher

published 16 Dec 2013

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Two Residues in the Basic Region of the Yeast Transcription Factor Yap8 Are Crucial for Its DNA-Binding Specificity

Catarina Amaral, Catarina Pimentel, Rute G. Matos, Cecília M. Arraiano, Manolis Matzapetakis, Claudina Rodrigues-Pousada

published 16 Dec 2013

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A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy

Tommaso Pippucci, Antonia Parmeggiani, Flavia Palombo, Alessandra Maresca, Andrea Angius, Laura Crisponi, Francesco Cucca, Rocco Liguori, Maria Lucia Valentino, Marco Seri, Valerio Carelli

published 16 Dec 2013

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Identification of Navβ1 Residues Involved in the Modulation of the Sodium Channel Nav1.4

Angel A. Islas, Alfredo Sánchez-Solano, Thomas Scior, Lourdes Millan-PerezPeña, Eduardo M. Salinas-Stefanon

published 16 Dec 2013

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Whole Exome Sequencing Identifies Novel Recurrently Mutated Genes in Patients with Splenic Marginal Zone Lymphoma

Marina Parry, Matthew J. J. Rose-Zerilli, Jane Gibson, Sarah Ennis, Renata Walewska, Jade Forster, Helen Parker, Zadie Davis, Anne Gardiner, Andrew Collins, David G. Oscier, Jonathan C. Strefford

published 13 Dec 2013

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Molecular Epidemiology of Nontypeable Haemophilus influenzae Causing Community-Acquired Pneumonia in Adults

Carmen Puig, Laura Calatayud, Sara Martí, Fe Tubau, Carolina Garcia-Vidal, Jordi Carratalà, Josefina Liñares, Carmen Ardanuy

published 13 Dec 2013

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Mutation Inactivation of Nijmegen Breakage Syndrome Gene (NBS1) in Hepatocellular Carcinoma and Intrahepatic Cholangiocarcinoma

Yan Wang, Yu Hong, Man Li, Jiang Long, Yan-Ping Zhao, Jun-Xia Zhang, Qian Li, Hong You, Wei-Min Tong, Ji-Dong Jia, Jian Huang

published 13 Dec 2013

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Observational Cohort Study of Ventricular Arrhythmia in Adults with Marfan Syndrome Caused by FBN1 Mutations

Ali Aydin, Baran A. Adsay, Sara Sheikhzadeh, Britta Keyser, Meike Rybczynski, Claudia Sondermann, Christian Detter, Daniel Steven, Peter N. Robinson, Jürgen Berger, Jörg Schmidtke, Stefan Blankenberg, Stephan Willems, Yskert von Kodolitsch, Boris A. Hoffmann

published 13 Dec 2013

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The bZIP Transcription Factor Fgap1 Mediates Oxidative Stress Response and Trichothecene Biosynthesis But Not Virulence in Fusarium graminearum

Mathilde Montibus, Christine Ducos, Marie-Noelle Bonnin-Verdal, Jorg Bormann, Nadia Ponts, Florence Richard-Forget, Christian Barreau

published 12 Dec 2013

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Whole-Exome Sequencing to Identify a Novel LMNA Gene Mutation Associated with Inherited Cardiac Conduction Disease

Chun-Chi Lai, Yung-Hsin Yeh, Wen-Ping Hsieh, Chi-Tai Kuo, Wen-Ching Wang, Chia-Han Chu, Chiu-Lien Hung, Chia-Yang Cheng, Hsin-Yi Tsai, Jia-Lin Lee, Chuan-Yi Tang, Lung-An Hsu

published 12 Dec 2013

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The Disease-Specific Phenotype in Cardiomyocytes Derived from Induced Pluripotent Stem Cells of Two Long QT Syndrome Type 3 Patients

Azra Fatima, Shao Kaifeng, Sven Dittmann, Guoxing Xu, Manoj K. Gupta, Matthias Linke, Ulrich Zechner, Filomain Nguemo, Hendrik Milting, Martin Farr, Jürgen Hescheler, Tomo Šarić

published 11 Dec 2013

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