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Substitution mutation

6 Minute Walk Test in Duchenne MD Patients with Different Mutations: 12 Month Changes

Marika Pane, Elena S. Mazzone, Maria Pia Sormani, Sonia Messina, Gian Luca Vita, Lavinia Fanelli, Angela Berardinelli, Yvan Torrente, Adele D'Amico, Valentina Lanzillotta, Emanuela Viggiano, Paola D'Ambrosio, Filippo Cavallaro, Silvia Frosini, Luca Bello, Serena Bonfiglio, Roberta Scalise, Roberto De Sanctis, Enrica Rolle, Flaviana Bianco, Marlene Van der Haawue, Francesca Magri, Concetta Palermo, Francesca Rossi, Maria Alice Donati, Chiara Alfonsi, Michele Sacchini, Maria Teresa Arnoldi, Giovanni Baranello, Tiziana Mongini, Antonella Pini, Roberta Battini, Elena Pegoraro, Stefano C. Previtali, Sara Napolitano, Claudio Bruno, Luisa Politano, Giacomo P. Comi, Enrico Bertini, Lucia Morandi, Francesca Gualandi, Alessandra Ferlini, Nathalie Goemans, Eugenio Mercuri

published 08 Jan 2014

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Fluctuating Selection Models and Mcdonald-Kreitman Type Analyses

Toni I. Gossmann, David Waxman, Adam Eyre-Walker

published 07 Jan 2014

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Rheostats and Toggle Switches for Modulating Protein Function

Sarah Meinhardt, Michael W. Manley Jr, Daniel J. Parente, Liskin Swint-Kruse

published 30 Dec 2013

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Isolation and Characterization of a Type 2 Vaccine-Derived Poliovirus from Environmental Surveillance in China, 2012

Zexin Tao, Yong Zhang, Yao Liu, Aiqiang Xu, Xiaojuan Lin, Hiromu Yoshida, Ping Xiong, Shuangli Zhu, Suting Wang, Dongmei Yan, Lizhi Song, Haiyan Wang, Ning Cui, Wenbo Xu

published 26 Dec 2013

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Drug Resistance Missense Mutations in Cancer Are Subject to Evolutionary Constraints

Ran Friedman

published 20 Dec 2013

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BRAFV600E Mutation Analysis in Patients with Metastatic Colorectal Cancer (mCRC) in Daily Clinical Practice: Correlations with Clinical Characteristics, and Its Impact on Patients’ Outcome

Zacharenia Saridaki, Maria Tzardi, Maria Sfakianaki, Chara Papadaki, Alexandra Voutsina, Aristea Kalykaki, Ippokratis Messaritakis, Kyriakos Mpananis, Dimitris Mavroudis, Efstathios Stathopoulos, Vassilis Georgoulias, John Souglakos

published 18 Dec 2013

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Conformation and Stability of Intramolecular Telomeric G-Quadruplexes: Sequence Effects in the Loops

Giovanna Sattin, Anna Artese, Matteo Nadai, Giosuè Costa, Lucia Parrotta, Stefano Alcaro, Manlio Palumbo, Sara N. Richter

published 18 Dec 2013

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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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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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CLCN1 Mutations in Czech Patients with Myotonia Congenita, In Silico Analysis of Novel and Known Mutations in the Human Dimeric Skeletal Muscle Chloride Channel

Daniela Skálová, Jana Zídková, Stanislav Voháňka, Radim Mazanec, Zuzana Mušová, Petr Vondráček, Lenka Mrázová, Josef Kraus, Kamila Réblová, Lenka Fajkusová

published 11 Dec 2013

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A Missense Mutation in CRYBB2 Leads to Progressive Congenital Membranous Cataract by Impacting the Solubility and Function of βB2-Crystallin

Weirong Chen, Xiaoyun Chen, Zhengmao Hu, Haotian Lin, Fengqi Zhou, Lixia Luo, Xinyu Zhang, Xiaojian Zhong, Ye Yang, Changrui Wu, Zhuoling Lin, Shaobi Ye, Yizhi Liu, for the study group of CCPMOH

published 28 Nov 2013

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Involvement of and Interaction between WNT10A and EDA Mutations in Tooth Agenesis Cases in the Chinese Population

Huiying He, Dong Han, Hailan Feng, Hong Qu, Shujuan Song, Baojing Bai, Zhenting Zhang

published 27 Nov 2013

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