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Mutation detection

Analysis of Paired Primary-Metastatic Hormone-Receptor Positive Breast Tumors (HRPBC) Uncovers Potential Novel Drivers of Hormonal Resistance

Luis Manso, Silvana Mourón, Michael Tress, Gonzalo Gómez-López, Manuel Morente, Eva Ciruelos, Miriam Rubio-Camarillo, Jose Luis Rodriguez-Peralto, Miguel A. Pujana, David G. Pisano, Miguel Quintela-Fandino

published 19 May 2016

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Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex

Saketh Kapoor, Mohd Hussain Shah, Nivedita Singh, Mohammad Iqbal Rather, Vishwanath Bhat, Sindhura Gopinath, Parayil Sankaran Bindu, Arun B. Taly, Sanjib Sinha, Madhu Nagappa, Rose Dawn Bharath, Anita Mahadevan, Gayathri Narayanappa, Yasha T. Chickabasaviah, Arun Kumar

published 19 May 2016

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Novel Mutations in the Voltage-Gated Sodium Channel of Pyrethroid-Resistant Varroa destructor Populations from the Southeastern USA

Joel González-Cabrera, Sonia Rodríguez-Vargas, T. G. Emyr Davies, Linda M. Field, Daniel Schmehl, James D. Ellis, Klemens Krieger, Martin S. Williamson

published 18 May 2016

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Characterization of Novel Hepatitis B Virus PreS/S-Gene Mutations in a Patient with Occult Hepatitis B Virus Infection

Jianhong Chen, Yan Liu, Jun Zhao, Zhihui Xu, Rongjuan Chen, Lanlan Si, Shanshan Lu, Xiaodong Li, Shuai Wang, Kai Zhang, Jin Li, Juqiang Han, Dongping Xu

published 16 May 2016

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Prevalence of Intrathecal Acyclovir Resistant Virus in Herpes Simplex Encephalitis Patients

Johanna G. Mitterreiter, Maarten J. Titulaer, Gijsbert P. van Nierop, Jeroen J. A. van Kampen, Georgina I. Aron, Albert D. M. E. Osterhaus, Georges M. G. M. Verjans, Werner J. D. Ouwendijk

published 12 May 2016

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Nanopore-Based Target Sequence Detection

Trevor J. Morin, Tyler Shropshire, Xu Liu, Kyle Briggs, Cindy Huynh, Vincent Tabard-Cossa, Hongyun Wang, William B. Dunbar

published 05 May 2016

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Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

Morad Ansari, Jacqueline Rainger, Isabel M. Hanson, Kathleen A. Williamson, Freddie Sharkey, Louise Harewood, Angela Sandilands, Jill Clayton-Smith, Helene Dollfus, Pierre Bitoun, Francoise Meire, Judy Fantes, Brunella Franco, Birgit Lorenz, David S. Taylor, Fiona Stewart, Colin E. Willoughby, Meriel McEntagart, Peng Tee Khaw, Carol Clericuzio, Lionel Van Maldergem, Denise Williams, Ruth Newbury-Ecob, Elias I. Traboulsi, Eduardo D. Silva, Mukhlis M. Madlom, David R. Goudie, Brian W. Fleck, Dagmar Wieczorek, Juergen Kohlhase, Alice D. McTrusty, Carol Gardiner, Christopher Yale, Anthony T. Moore, Isabelle Russell-Eggitt, Lily Islam, Melissa Lees, Philip L. Beales, Stephen J. Tuft, Juan B. Solano, Miranda Splitt, Jens Michael Hertz, Trine E. Prescott, Deborah J. Shears, Ken K. Nischal, Martine Doco-Fenzy, Fabienne Prieur, I. Karen Temple, Katherine L. Lachlan, Giuseppe Damante, Danny A. Morrison, Veronica van Heyningen, David R. FitzPatrick

published 28 Apr 2016

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The Polymorphisms in LNK Gene Correlated to the Clinical Type of Myeloproliferative Neoplasms

Yan Chen, Fang Fang, Yang Hu, Qian Liu, Dingfang Bu, Mei Tan, Liusong Wu, Ping Zhu

published 25 Apr 2016

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Detection of BRAF Mutations Using a Fully Automated Platform and Comparison with High Resolution Melting, Real-Time Allele Specific Amplification, Immunohistochemistry and Next Generation Sequencing Assays, for Patients with Metastatic Melanoma

Alexandre Harlé, Julia Salleron, Claire Franczak, Cindy Dubois, Pierre Filhine-Tressarieu, Agnès Leroux, Jean-Louis Merlin

published 25 Apr 2016

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Validation and Application of a Custom-Designed Targeted Next-Generation Sequencing Panel for the Diagnostic Mutational Profiling of Solid Tumors

Guy Froyen, An Broekmans, Femke Hillen, Karin Pat, Ruth Achten, Jeroen Mebis, Jean-Luc Rummens, Johan Willemse, Brigitte Maes

published 21 Apr 2016

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Rapid and Simultaneous Detection of Major Drug Resistance Mutations in Reverse Transcriptase Gene for HIV-1 CRF01_AE, CRF07_BC and Subtype B in China Using Sequenom MassARRAY® System

Ka-Wai Cheung, Qiaoli Peng, Liufen He, Kanru Cai, Qiang Jiang, Boping Zhou, Sabrina Wai-Chi To, Wing-Cheong Yam, Li Liu, Zhiwei Chen, Hui Wang

published 19 Apr 2016

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A Digital PCR-Based Method for Efficient and Highly Specific Screening of Genome Edited Cells

Scott D. Findlay, Krista M. Vincent, Jennifer R. Berman, Lynne-Marie Postovit

published 18 Apr 2016

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Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia)

Alexander Y. Сhurbanov, Tatiana M. Karafet, Igor V. Morozov, Valeriia Yu. Mikhalskaia, Marina V. Zytsar, Alexander A. Bondar, Olga L. Posukh

published 15 Apr 2016

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