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Nonsense mutation

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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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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Genomic Characteristics of Genetic Creutzfeldt-Jakob Disease Patients with V180I Mutation and Associations with Other Neurodegenerative Disorders

Sol Moe Lee, Myungguen Chung, Jae Wook Hyeon, Seok Won Jeong, Young Ran Ju, Heebal Kim, Jeongmin Lee, SangYun Kim, Seong Soo A. An, Sung Beom Cho, Yeong Seon Lee, Su Yeon Kim

published 24 Jun 2016

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Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing

Xiaoru Xia, Caijun Dai, Xiaochun Zhu, Qiumei Liao, Xu Luo, Yangyang Fu, Liangxing Wang

published 17 Jun 2016

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Clear Plaque Mutants of Lactococcal Phage TP901-1

Witold Kot, Mogens Kilstrup, Finn K. Vogensen, Karin Hammer

published 03 Jun 2016

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Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing

Hao Deng, Qian Lu, Hongbo Xu, Xiong Deng, Lamei Yuan, Zhijian Yang, Yi Guo, Qiongfen Lin, Jingjing Xiao, Liping Guan, Zhi Song

published 19 May 2016

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Rapid Acquisition of Linezolid Resistance in Methicillin-Resistant Staphylococcus aureus: Role of Hypermutation and Homologous Recombination

Shigekazu Iguchi, Tomonori Mizutani, Keiichi Hiramatsu, Ken Kikuchi

published 16 May 2016

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Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death

Michael V. Zaragoza, Lianna Fung, Ember Jensen, Frances Oh, Katherine Cung, Linda A. McCarthy, Christine K. Tran, Van Hoang, Simin A. Hakim, Anna Grosberg

published 16 May 2016

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Genome Sequencing and Comparative Analysis of Saccharomyces cerevisiae Strains of the Peterhof Genetic Collection

Polina B. Drozdova, Oleg V. Tarasov, Andrew G. Matveenko, Elina A. Radchenko, Julia V. Sopova, Dmitrii E. Polev, Sergey G. Inge-Vechtomov, Pavel V. Dobrynin

published 06 May 2016

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DNA Topology and the Initiation of Virus DNA Packaging

Choon Seok Oh, Jean Sippy, Bridget Charbonneau, Jennifer Crow Hutchinson, Olga Esther Mejia-Romero, Michael Barton, Priyal Patel, Rachel Sippy, Michael Feiss

published 04 May 2016

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Chemical-Induced Read-Through at Premature Termination Codons Determined by a Rapid Dual-Fluorescence System Based on S. cerevisiae

Emiliano Altamura, Monica Borgatti, Alessia Finotti, Jessica Gasparello, Roberto Gambari, Mariangela Spinelli, Rosa Castaldo, Nicola Altamura

published 27 Apr 2016

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Molecular Heterogeneity of Ewing Sarcoma as Detected by Ion Torrent Sequencing

Nana Zhang, Haijing Liu, Guanjun Yue, Yan Zhang, Jiangfeng You, Hua Wang

published 14 Apr 2016

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MOXD2, a Gene Possibly Associated with Olfaction, Is Frequently Inactivated in Birds

Chul Jun Goh, Dongjin Choi, Dong-Bin Park, Hyein Kim, Yoonsoo Hahn

published 13 Apr 2016

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