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Deletion mutation

The Interaction between Selection, Demography and Selfing and How It Affects Population Viability

Diala Abu Awad, Sophie Gallina, Cyrille Bonamy, Sylvain Billiard

published 21 Jan 2014

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The Effect of Recombinant Human Iduronate-2-Sulfatase (Idursulfase) on Growth in Young Patients with Mucopolysaccharidosis Type II

Zbigniew Żuber, Agnieszka Różdżyńska-Świątkowska, Agnieszka Jurecka, Anna Tylki-Szymańska

published 13 Jan 2014

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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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Next-Generation Sequencing of Lung Cancer EGFR Exons 18-21 Allows Effective Molecular Diagnosis of Small Routine Samples (Cytology and Biopsy)

Dario de Biase, Michela Visani, Umberto Malapelle, Francesca Simonato, Valentina Cesari, Claudio Bellevicine, Annalisa Pession, Giancarlo Troncone, Ambrogio Fassina, Giovanni Tallini

published 23 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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ReacKnock: Identifying Reaction Deletion Strategies for Microbial Strain Optimization Based on Genome-Scale Metabolic Network

Zixiang Xu, Ping Zheng, Jibin Sun, Yanhe Ma

published 11 Dec 2013

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Role of IGF-Binding Protein 3 in the Resistance of EGFR Mutant Lung Cancer Cells to EGFR-Tyrosine Kinase Inhibitors

Yun Jung Choi, Gun Min Park, Jin Kyung Rho, Sun Ye Kim, Gwang Sup So, Hyeong Ryul Kim, Chang-Min Choi, Jae Cheol Lee

published 05 Dec 2013

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Quantitative Identification of Mutant Alleles Derived from Lung Cancer in Plasma Cell-Free DNA via Anomaly Detection Using Deep Sequencing Data

Yoji Kukita, Junji Uchida, Shigeyuki Oba, Kazumi Nishino, Toru Kumagai, Kazuya Taniguchi, Takako Okuyama, Fumio Imamura, Kikuya Kato

published 21 Nov 2013

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Abnormal Trafficking of Endogenously Expressed BMPR2 Mutant Allelic Products in Patients with Heritable Pulmonary Arterial Hypertension

Andrea L. Frump, Jonathan W. Lowery, Rizwan Hamid, Eric D. Austin, Mark de Caestecker

published 05 Nov 2013

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Genetic and Phenotypic Heterogeneity in Chinese Patients with Waardenburg Syndrome Type II

Shuzhi Yang, Pu Dai, Xin Liu, Dongyang Kang, Xin Zhang, Weiyan Yang, Chengyong Zhou, Shiming Yang, Huijun Yuan

published 23 Oct 2013

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PTCH1 Gene Mutations in Keratocystic Odontogenic Tumors: A Study of 43 Chinese Patients and a Systematic Review

Yan-Yan Guo, Jian-Yun Zhang, Xue-Fen Li, Hai-Yan Luo, Feng Chen, Tie-Jun Li

published 21 Oct 2013

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The Antifungal Eugenol Perturbs Dual Aromatic and Branched-Chain Amino Acid Permeases in the Cytoplasmic Membrane of Yeast

Emad Darvishi, Mansoor Omidi, Ali Akbar Shahnejat Bushehri, Ashkan Golshani, Myron L. Smith

published 18 Oct 2013

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