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Mutation detection

Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees

Amina Bakhchane, Majida Charif, Sara Salime, Redouane Boulouiz, Halima Nahili, Rachida Roky, Guy Lenaers, Abdelhamid Barakat

published 15 Sep 2015

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Clinical Validation of Targeted Next Generation Sequencing for Colon and Lung Cancers

Nicky D’Haene, Marie Le Mercier, Nancy De Nève, Oriane Blanchard, Mélanie Delaunoy, Hakim El Housni, Barbara Dessars, Pierre Heimann, Myriam Remmelink, Pieter Demetter, Sabine Tejpar, Isabelle Salmon

published 14 Sep 2015

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Automatic Combination of Operators in a Genetic Algorithm to Solve the Traveling Salesman Problem

Carlos Contreras-Bolton, Victor Parada

published 14 Sep 2015

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Longitudinal Detection and Persistence of Minority Drug-Resistant Populations and Their Effect on Salvage Therapy

Masako Nishizawa, Masakazu Matsuda, Junko Hattori, Teiichiro Shiino, Tetsuro Matano, Walid Heneine, Jeffrey A. Johnson, Wataru Sugiura

published 11 Sep 2015

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Rapid Molecular Detection of Multidrug-Resistant Tuberculosis by PCR-Nucleic Acid Lateral Flow Immunoassay

Hatairat Kamphee, Angkana Chaiprasert, Therdsak Prammananan, Natpapas Wiriyachaiporn, Airin Kanchanatavee, Tararaj Dharakul

published 10 Sep 2015

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Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing

Bruno Maranhao, Pooja Biswas, Alexander D. H. Gottsch, Mili Navani, Muhammad Asif Naeem, John Suk, Justin Chu, Sheen N. Khan, Rachel Poleman, Javed Akram, Sheikh Riazuddin, Pauline Lee, S. Amer Riazuddin, J. Fielding Hejtmancik, Radha Ayyagari

published 09 Sep 2015

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Mutation Scanning in Wheat by Exon Capture and Next-Generation Sequencing

Robert King, Nicholas Bird, Ricardo Ramirez-Gonzalez, Jane A. Coghill, Archana Patil, Keywan Hassani-Pak, Cristobal Uauy, Andrew L. Phillips

published 03 Sep 2015

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The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan

Makito Hirano, Wataru Satake, Kenji Ihara, Ikuya Tsuge, Shuji Kondo, Ken Saida, Hiroyuki Betsui, Kazuhiro Okubo, Hikaru Sakamoto, Shuichi Ueno, Yasushi Ikuno, Ryu Ishihara, Hiromi Iwahashi, Mitsuru Ohishi, Toshiyuki Mano, Toshihide Yamashita, Yutaka Suzuki, Yusaku Nakamura, Susumu Kusunoki, Tatsushi Toda

published 01 Sep 2015

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Consideration of Viral Resistance for Optimization of Direct Antiviral Therapy of Hepatitis C Virus Genotype 1-Infected Patients

Julia Dietz, Simone Susser, Caterina Berkowski, Dany Perner, Stefan Zeuzem, Christoph Sarrazin

published 28 Aug 2015

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Enzyme-Free Detection of Mutations in Cancer DNA Using Synthetic Oligonucleotide Probes and Fluorescence Microscopy

Laura Miotke, Arindam Maity, Hanlee Ji, Jonathan Brewer, Kira Astakhova

published 27 Aug 2015

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Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles

Yi-Chu Liao, Cheng-Tsung Hsiao, Jong-Ling Fuh, Chang-Ming Chern, Wei-Ju Lee, Yuh-Cherng Guo, Shuu-Jiun Wang, I-Hui Lee, Yo-Tsen Liu, Yen-Feng Wang, Feng-Chi Chang, Ming-Hung Chang, Bing-Wen Soong, Yi-Chung Lee

published 26 Aug 2015

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Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss

Hong Xia, Xiangjun Huang, Yi Guo, Pengzhi Hu, Guangxiang He, Xiong Deng, Hongbo Xu, Zhijian Yang, Hao Deng

published 26 Aug 2015

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Novel Analysis Software for Detecting and Classifying Ca²⁺ Transient Abnormalities in Stem Cell-Derived Cardiomyocytes

Kirsi Penttinen, Harri Siirtola, Jorge Àvalos-Salguero, Tiina Vainio, Martti Juhola, Katriina Aalto-Setälä

published 26 Aug 2015

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