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Mutation detection

Splice Site Mutations in the ATP7A Gene

Tina Skjørringe, Zeynep Tümer, Lisbeth Birk Møller

published 11 Apr 2011

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Rapid KRAS, EGFR, BRAF and PIK3CA Mutation Analysis of Fine Needle Aspirates from Non-Small-Cell Lung Cancer Using Allele-Specific qPCR

Ronald van Eijk, Jappe Licht, Melanie Schrumpf, Mehrdad Talebian Yazdi, Dina Ruano, Giusi I. Forte, Petra M. Nederlof, Maud Veselic, Klaus F. Rabe, Jouke T. Annema, Vincent Smit, Hans Morreau, Tom van Wezel

published 08 Mar 2011

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Multicolor Combinatorial Probe Coding for Real-Time PCR

Qiuying Huang, Linlin Zheng, Yumei Zhu, Jiafeng Zhang, Huixin Wen, Jianwei Huang, Jianjun Niu, Xilin Zhao, Qingge Li

published 14 Jan 2011

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K70Q Adds High-Level Tenofovir Resistance to “Q151M Complex” HIV Reverse Transcriptase through the Enhanced Discrimination Mechanism

Atsuko Hachiya, Eiichi N. Kodama, Matthew M. Schuckmann, Karen A. Kirby, Eleftherios Michailidis, Yasuko Sakagami, Shinichi Oka, Kamalendra Singh, Stefan G. Sarafianos

published 13 Jan 2011

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Structure-Based Analysis of Five Novel Disease-Causing Mutations in 21-Hydroxylase-Deficient Patients

Carolina Minutolo, Alejandro D. Nadra, Cecilia Fernández, Melisa Taboas, Noemí Buzzalino, Bárbara Casali, Susana Belli, Eduardo H. Charreau, Liliana Alba, Liliana Dain

published 11 Jan 2011

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Detection of Resistance Mutations to Antivirals Oseltamivir and Zanamivir in Avian Influenza A Viruses Isolated from Wild Birds

Goran Orozovic, Kanita Orozovic, Johan Lennerstrand, Björn Olsen

published 06 Jan 2011

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Mutation Detection with Next-Generation Resequencing through a Mediator Genome

Omri Wurtzel, Mally Dori-Bachash, Shmuel Pietrokovski, Edouard Jurkevitch, Rotem Sorek

published 31 Dec 2010

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Subtypes of Familial Hemophagocytic Lymphohistiocytosis in Japan Based on Genetic and Functional Analyses of Cytotoxic T Lymphocytes

Kozo Nagai, Ken Yamamoto, Hiroshi Fujiwara, Jun An, Toshiki Ochi, Koichiro Suemori, Takahiro Yasumi, Hisamichi Tauchi, Katsuyoshi Koh, Maho Sato, Akira Morimoto, Toshio Heike, Eiichi Ishii, Masaki Yasukawa

published 30 Nov 2010

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The Effect of Gentamicin-Induced Readthrough on a Novel Premature Termination Codon of CD18 Leukocyte Adhesion Deficiency Patients

Amos J. Simon, Atar Lev, Baruch Wolach, Ronit Gavrieli, Ninette Amariglio, Ester Rosenthal, Ephraim Gazit, Eran Eyal, Gideon Rechavi, Raz Somech

published 16 Nov 2010

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FGFR3, HRAS, KRAS, NRAS and PIK3CA Mutations in Bladder Cancer and Their Potential as Biomarkers for Surveillance and Therapy

Lucie C. Kompier, Irene Lurkin, Madelon N. M. van der Aa, Bas W. G. van Rhijn, Theo H. van der Kwast, Ellen C. Zwarthoff

published 03 Nov 2010

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Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome

Amélie Bonnefond, Emmanuelle Durand, Olivier Sand, Franck De Graeve, Sophie Gallina, Kanetee Busiah, Stéphane Lobbens, Albane Simon, Christine Bellanné-Chantelot, Louis Létourneau, Raphael Scharfmann, Jérôme Delplanque, Robert Sladek, Michel Polak, Martine Vaxillaire, Philippe Froguel

published 26 Oct 2010

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Impact of the Mitochondrial Genetic Background in Complex III Deficiency

Mari Carmen Gil Borlado, David Moreno Lastres, Maritza Gonzalez Hoyuela, Maria Moran, Alberto Blazquez, Rosa Pello, Lorena Marin Buera, Toni Gabaldon, Juan Jose Garcia Peñas, Miguel A. Martín, Joaquin Arenas, Cristina Ugalde

published 17 Sep 2010

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Mitochondrial DNA Variant Discovery and Evaluation in Human Cardiomyopathies through Next-Generation Sequencing

Michael V. Zaragoza, Joseph Fass, Marta Diegoli, Dawei Lin, Eloisa Arbustini

published 20 Aug 2010

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