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Mutation detection

Functional Analysis of a Dominant Negative Mutation of Interferon Regulatory Factor 5

Long Yang, Tiejun Zhao, Xiaoliu Shi, Peyman Nakhaei, Yunling Wang, Qiang Sun, John Hiscott, Rongtuan Lin

published 11 May 2009

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Novel Mutations in ACVR1 Result in Atypical Features in Two Fibrodysplasia Ossificans Progressiva Patients

Kirsten A. Petrie, Wen Hwa Lee, Alex N. Bullock, Jenny J. Pointon, Roger Smith, R. Graham G. Russell, Matthew A. Brown, B. Paul Wordsworth, James T. Triffitt

published 30 Mar 2009

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High-Throughput Detection of Induced Mutations and Natural Variation Using KeyPoint™ Technology

Diana Rigola, Jan van Oeveren, Antoine Janssen, Anita Bonné, Harrie Schneiders, Hein J. A. van der Poel, Nathalie J. van Orsouw, René C. J. Hogers, Michiel T. J. de Both, Michiel J. T. van Eijk

published 13 Mar 2009

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Toll-Like Receptor 4 (TLR4) and Typhoid Fever in Vietnam

Nguyen Thi Hue, Mai Ngoc Lanh, Le Thi Phuong, Ha Vinh, Nguyen Tran Chinh, Tran Tinh Hien, Nguyen T. Hieu, Jeremy J. Farrar, Sarah J. Dunstan

published 11 Mar 2009

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Drug Resistance Mutations for Surveillance of Transmitted HIV-1 Drug-Resistance: 2009 Update

Diane E. Bennett, Ricardo J. Camacho, Dan Otelea, Daniel R. Kuritzkes, Hervé Fleury, Mark Kiuchi, Walid Heneine, Rami Kantor, Michael R. Jordan, Jonathan M. Schapiro, Anne-Mieke Vandamme, Paul Sandstrom, Charles A. B. Boucher, David van de Vijver, Soo-Yon Rhee, Tommy F. Liu, Deenan Pillay, Robert W. Shafer

published 06 Mar 2009

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Comparing Platforms for C. elegans Mutant Identification Using High-Throughput Whole-Genome Sequencing

Yufeng Shen, Sumeet Sarin, Ye Liu, Oliver Hobert, Itsik Pe'er

published 24 Dec 2008

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p16 Mutation Spectrum in the Premalignant Condition Barrett's Esophagus

Thomas G. Paulson, Patricia C. Galipeau, Lianjun Xu, Heather D. Kissel, Xiaohong Li, Patricia L. Blount, Carissa A. Sanchez, Robert D. Odze, Brian J. Reid

published 27 Nov 2008

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Detecting Clusters of Mutations

Tong Zhou, Peter J. Enyeart, Claus O. Wilke

published 19 Nov 2008

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Exon Expression Arrays as a Tool to Identify New Cancer Genes

Mieke Schutte, Fons Elstrodt, Linda B. C. Bralten, Jord H. A. Nagel, Elza Duijm, Antoinette Hollestelle, Maartje J. Vuerhard, Marijke Wasielewski, Justine K. Peeters, Peter van der Spek, Peter A. Sillevis Smitt, Pim J. French

published 20 Aug 2008

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Non-Syndromic Tooth Agenesis in Two Chinese Families Associated with Novel Missense Mutations in the TNF Domain of EDA (Ectodysplasin A)

Shufeng Li, Jiahuang Li, Jian Cheng, Bingrong Zhou, Xin Tong, Xiangbai Dong, Zixing Wang, Qingang Hu, Meng Chen, Zi-Chun Hua

published 11 Jun 2008

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Evidence for a Pathogenic Role of Different Mutations at Codon 188 of PRNP

Sigrun Roeber, Eva-Maria Grasbon-Frodl, Otto Windl, Bjarne Krebs, Wei Xiang, Caren Vollmert, Thomas Illig, Andreas Schröter, Thomas Arzberger, Petra Weber, Inga Zerr, Hans A. Kretzschmar

published 14 May 2008

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High Frequency of Copy Number Variations and Sequence Variants at CYP21A2 Locus: Implication for the Genetic Diagnosis of 21-Hydroxylase Deficiency

Silvia Parajes, Celsa Quinteiro, Fernando Domínguez, Lourdes Loidi

published 14 May 2008

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BRCA1 and BRCA2 Germline Mutations in Malaysian Women with Early-Onset Breast Cancer without a Family History

Gaik Theng Toh, Peter Kang, Sharlene S. W. Lee, Daphne Shin-Chi Lee, Sheau Yee Lee, Suhaida Selamat, Nur Aishah Mohd Taib, Sook-Yee Yoon, Cheng Har Yip, Soo-Hwang Teo

published 23 Apr 2008

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