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Frameshift mutation

Genetic Diagnosis of Two Dopa-Responsive Dystonia Families by Exome Sequencing

Zhan-fang Sun, Yu-han Zhang, Ji-feng Guo, Qi-ying Sun, Jun-pu Mei, Han-lin Zhou, Li-ping Guan, Jin-yong Tian, Zheng-mao Hu, Jia-da Li, Kun Xia, Xin-xiang Yan, Bei-sha Tang

published 02 Sep 2014

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The Mutational Spectrum of Lynch Syndrome in Cyprus

Maria A. Loizidou, Ioanna Neophytou, Demetris Papamichael, Panteleimon Kountourakis, Vassilios Vassiliou, Yiola Marcou, Eleni Kakouri, Georgios Ioannidis, Chrystalla Philippou, Elena Spanou, George A. Tanteles, Violetta Anastasiadou, Andreas Hadjisavvas, Kyriacos Kyriacou

published 18 Aug 2014

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Whole-Genome Sequencing of Individuals from a Founder Population Identifies Candidate Genes for Asthma

Catarina D. Campbell, Kiana Mohajeri, Maika Malig, Fereydoun Hormozdiari, Benjamin Nelson, Gaixin Du, Kristen M. Patterson, Celeste Eng, Dara G. Torgerson, Donglei Hu, Catherine Herman, Jessica X. Chong, Arthur Ko, Brian J. O'Roak, Niklas Krumm, Laura Vives, Choli Lee, Lindsey A. Roth, William Rodriguez-Cintron, Jose Rodriguez-Santana, Emerita Brigino-Buenaventura, Adam Davis, Kelley Meade, Michael A. LeNoir, Shannon Thyne, Daniel J. Jackson, James E. Gern, Robert F. Lemanske Jr, Jay Shendure, Mark Abney, Esteban G. Burchard, Carole Ober, Evan E. Eichler

published 12 Aug 2014

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High Resolution Melting Analysis: A Rapid and Accurate Method to Detect CALR Mutations

Cristina Bilbao-Sieyro, Guillermo Santana, Melania Moreno, Laura Torres, Gonzalo Santana-Lopez, Carlos Rodriguez-Medina, María Perera, Beatriz Bellosillo, Silvia de la Iglesia, Teresa Molero, Maria Teresa Gomez-Casares

published 28 Jul 2014

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Novel Missense Variants of ZFPM2/FOG2 Identified in Conotruncal Heart Defect Patients Do Not Impair Interaction with GATA4

Wenwen Zhang, Li Shen, Zhantao Deng, Yibing Ding, Xuming Mo, Zhengfeng Xu, Qian Gao, Long Yi

published 15 Jul 2014

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Acquired Resistance of Mycobacterium tuberculosis to Bedaquiline

Koen Andries, Cristina Villellas, Nele Coeck, Kim Thys, Tom Gevers, Luc Vranckx, Nacer Lounis, Bouke C. de Jong, Anil Koul

published 10 Jul 2014

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Functional and Molecular Surveillance of Helicobacter pylori Antibiotic Resistance in Kuala Lumpur

Xinsheng Teh, Yalda Khosravi, Woon Ching Lee, Alex Hwong Ruey Leow, Mun Fai Loke, Jamuna Vadivelu, Khean Lee Goh

published 08 Jul 2014

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Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families

Sobia Shafique, Saima Siddiqi, Margit Schraders, Jaap Oostrik, Humaira Ayub, Ammad Bilal, Muhammad Ajmal, Celia Zazo Seco, Tim M. Strom, Atika Mansoor, Kehkashan Mazhar, Syed Tahir A. Shah, Alamdar Hussain, Maleeha Azam, Hannie Kremer, Raheel Qamar

published 20 Jun 2014

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Screening for Streptomycin Resistance-Conferring Mutations in Mycobacterium tuberculosis Clinical Isolates from Poland

Tomasz Jagielski, Helena Ignatowska, Zofia Bakuła, Łukasz Dziewit, Agnieszka Napiórkowska, Ewa Augustynowicz-Kopeć, Zofia Zwolska, Jacek Bielecki

published 17 Jun 2014

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Analysis of Familial Hemophagocytic Lymphohistiocytosis Type 4 (FHL-4) Mutant Proteins Reveals that S-Acylation Is Required for the Function of Syntaxin 11 in Natural Killer Cells

Andrew L. Hellewell, Ombretta Foresti, Nicola Gover, Morwenna Y. Porter, Eric W. Hewitt

published 09 Jun 2014

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Genotype-Phenotype Correlations in a Mountain Population Community with High Prevalence of Wilson’s Disease: Genetic and Clinical Homogeneity

Relu Cocoş, Alina Şendroiu, Sorina Schipor, Laurenţiu Camil Bohîlţea, Ionuţ Şendroiu, Florina Raicu

published 04 Jun 2014

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Mutations in SACPD-C Result in a Range of Elevated Stearic Acid Concentration in Soybean Seed

Militza Carrero-Colón, Nathan Abshire, Daniel Sweeney, Erik Gaskin, Karen Hudson

published 20 May 2014

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Characterization of a New CDC73 Missense Mutation that Impairs Parafibromin Expression and Nucleolar Localization

Giulia Masi, Maurizio Iacobone, Alessandro Sinigaglia, Barbara Mantelli, Gianmaria Pennelli, Ignazio Castagliuolo, Giorgio Palù, Luisa Barzon

published 19 May 2014

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