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Substitution mutation

Molecular Modelling of the Emergence of Azole Resistance in Mycosphaerella graminicola

Jonathan G. L. Mullins, Josie E. Parker, Hans J. Cools, Roberto C. Togawa, John A. Lucas, Bart A. Fraaije, Diane E. Kelly, Steven L. Kelly

published 27 Jun 2011

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The Congenital Cataract-Linked G61C Mutation Destabilizes γD-Crystallin and Promotes Non-Native Aggregation

Wang Zhang, Hong-Chen Cai, Fei-Feng Li, Yi-Bo Xi, Xu Ma, Yong-Bin Yan

published 31 May 2011

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RET Germline Mutations Identified by Exome Sequencing in a Chinese Multiple Endocrine Neoplasia Type 2A/Familial Medullary Thyroid Carcinoma Family

Xiao-Ping Qi, Ju-Ming Ma, Zhen-Fang Du, Rong-Biao Ying, Jun Fei, Hang-Yang Jin, Jian-Shan Han, Jin-Quan Wang, Xiao-Ling Chen, Chun-Yue Chen, Wen-Ting Liu, Jia-Jun Lu, Jian-Guo Zhang, Xian-Ning Zhang

published 31 May 2011

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In Silico and In Vitro Investigations of the Mutability of Disease-Causing Missense Mutation Sites in Spermine Synthase

Zhe Zhang, Joy Norris, Charles Schwartz, Emil Alexov

published 27 May 2011

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Screen for IDH1, IDH2, IDH3, D2HGDH and L2HGDH Mutations in Glioblastoma

Daniel Krell, Mawuelikem Assoku, Malcolm Galloway, Paul Mulholland, Ian Tomlinson, Chiara Bardella

published 23 May 2011

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Engineering of Insulin Receptor Isoform-Selective Insulin Analogues

Tine Glendorf, Carsten E. Stidsen, Mathias Norrman, Erica Nishimura, Anders R. Sørensen, Thomas Kjeldsen

published 20 May 2011

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Variation in NOD2 Augments Th2- and Th17 Responses to Myelin Basic Protein in Multiple Sclerosis

Chris Juul Hedegaard, Christian Enevold, Finn Sellebjerg, Klaus Bendtzen, Claus Henrik Nielsen

published 20 May 2011

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Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis

Lin Li, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, Xiangming Guo, Xiaodong Jiao, Qingjiong Zhang, J. Fielding Hejtmancik

published 13 May 2011

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An ENU-Mutagenesis Screen in the Mouse: Identification of Novel Developmental Gene Functions

Carolien Wansleeben, Léon van Gurp, Harma Feitsma, Carla Kroon, Ester Rieter, Marlies Verberne, Victor Guryev, Edwin Cuppen, Frits Meijlink

published 29 Apr 2011

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Dynamic Diagnosis of Familial Prion Diseases Supports the β2-α2 Loop as a Universal Interference Target

Massimiliano Meli, Maria Gasset, Giorgio Colombo

published 28 Apr 2011

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Evolutionary Analyses of Entire Genomes Do Not Support the Association of mtDNA Mutations with Ras/MAPK Pathway Syndromes

Alberto Gómez-Carballa, María Cerezo, Emilia Balboa, Claudia Heredia, Lidia Castro-Feijóo, Itxaso Rica, Jesús Barreiro, Jesús Eirís, Paloma Cabanas, Isabel Martínez-Soto, Joaquín Fernández-Toral, Manuel Castro-Gago, Manuel Pombo, Ángel Carracedo, Francisco Barros, Antonio Salas

published 19 Apr 2011

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Epistatic Roles for Pseudomonas aeruginosa MutS and DinB (DNA Pol IV) in Coping with Reactive Oxygen Species-Induced DNA Damage

Laurie H. Sanders, Babho Devadoss, Geraldine V. Raja, Jaime O'Connor, Shengchang Su, Daniel J. Wozniak, Daniel J. Hassett, Anthony J. Berdis, Mark D. Sutton

published 18 Apr 2011

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A Systematic Study of Gene Mutations in Urothelial Carcinoma; Inactivating Mutations in TSC2 and PIK3R1

Gottfrid Sjödahl, Martin Lauss, Sigurdur Gudjonsson, Fredrik Liedberg, Christer Halldén, Gunilla Chebil, Wiking Månsson, Mattias Höglund, David Lindgren

published 14 Apr 2011

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