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Mutation

Multiplex Detection of Rare Mutations by Picoliter Droplet Based Digital PCR: Sensitivity and Specificity Considerations

Eleonora Zonta, Fanny Garlan, Nicolas Pécuchet, Karla Perez-Toralla, Ouriel Caen, Coren Milbury, Audrey Didelot, Elizabeth Fabre, Hélène Blons, Pierre Laurent-Puig, Valérie Taly

published 14 Jul 2016

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Amyotrophic Lateral Sclerosis Type 20 - In Silico Analysis and Molecular Dynamics Simulation of hnRNPA1

Bruna Baumgarten Krebs, Joelma Freire De Mesquita

published 14 Jul 2016

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Resistance Surveillance in Candida albicans: A Five-Year Antifungal Susceptibility Evaluation in a Brazilian University Hospital

Isabela Haddad Peron, Franqueline Reichert-Lima, Ariane Fidelis Busso-Lopes, Cristiane Kibune Nagasako, Luzia Lyra, Maria Luiza Moretti, Angelica Zaninelli Schreiber

published 14 Jul 2016

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Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma

Shazia Micheal, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar, Aftab Iqbal, Muhammad Imran Khan, Anneke I. den Hollander

published 13 Jul 2016

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Significance of the BRAF mRNA Expression Level in Papillary Thyroid Carcinoma: An Analysis of The Cancer Genome Atlas Data

Young Jun Chai, Jin Wook Yi, Hyeon-Gun Jee, Young A Kim, Ju Han Kim, Mingzhao Xing, Kyu Eun Lee

published 13 Jul 2016

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Robustness to Faults Promotes Evolvability: Insights from Evolving Digital Circuits

Nicola Milano, Stefano Nolfi

published 13 Jul 2016

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Deep Whole-Genome Sequencing to Detect Mixed Infection of Mycobacterium tuberculosis

Mingyu Gan, Qingyun Liu, Chongguang Yang, Qian Gao, Tao Luo

published 08 Jul 2016

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Distinctive Recognition of Flagellin by Human and Mouse Toll-Like Receptor 5

Vida Forstnerič, Karolina Ivičak-Kocjan, Ajasja Ljubetič, Roman Jerala, Mojca Benčina

published 08 Jul 2016

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Familial Dilated Cardiomyopathy Caused by a Novel Frameshift in the BAG3 Gene

Rocio Toro, Alexandra Pérez-Serra, Oscar Campuzano, Javier Moncayo-Arlandi, Catarina Allegue, Anna Iglesias, Alipio Mangas, Ramon Brugada

published 08 Jul 2016

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Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations

Amit Tiwari, Johannes Lemke, Janine Altmueller, Holger Thiele, Esther Glaus, Johannes Fleischhauer, Peter Nürnberg, John Neidhardt, Wolfgang Berger

published 08 Jul 2016

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Specific MAPK-Associated MicroRNAs in Serum Differentiate Pancreatic Cancer from Autoimmune Pancreatitis

Manabu Akamatsu, Naohiko Makino, Yushi Ikeda, Akiko Matsuda, Miho Ito, Yasuharu Kakizaki, Yoshihiko Saito, Tetsuya Ishizawa, Toshikazu Kobayashi, Toru Furukawa, Yoshiyuki Ueno

published 05 Jul 2016

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Improved Clinical Risk Stratification in Patients with Long QT Syndrome? Novel Insights from Multi-Channel ECGs

Alexander Samol, Mehmet Gönes, Sven Zumhagen, Hans-Jürgen Bruns, Matthias Paul, Christian Vahlhaus, Johannes Waltenberger, Eric Schulze-Bahr, Lars Eckardt, Gerold Mönnig

published 05 Jul 2016

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Molecular Detection of Methicillin-Resistant Staphylococcus aureus by Non-Protein Coding RNA-Mediated Monoplex Polymerase Chain Reaction

Cheryl Yeap Soo Yean, Kishanraj Selva Raju, Rathinam Xavier, Sreeramanan Subramaniam, Subash C. B. Gopinath, Suresh V. Chinni

published 01 Jul 2016

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