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Mutation

Crystal Structure of the FERM-SH2 Module of Human Jak2

Randall McNally, Angela V. Toms, Michael J. Eck

published 26 May 2016

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Molecular Analysis of Rising Fluoroquinolone Resistance in Belgian Non-Invasive Streptococcus pneumoniae Isolates (1995-2014)

Pieter-Jan Ceyssens, Françoise Van Bambeke, Wesley Mattheus, Sophie Bertrand, Frédéric Fux, Eddie Van Bossuyt, Sabrina Damée, Henry-Jean Nyssen, Stéphane De Craeye, Jan Verhaegen, The Belgian Streptococcus pneumoniae Study Group , Paul M. Tulkens, Raymond Vanhoof

published 26 May 2016

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Novel Hypomorphic Alleles of the Mouse Tyrosinase Gene Induced by CRISPR-Cas9 Nucleases Cause Non-Albino Pigmentation Phenotypes

Anil K. Challa, Evan R. Boitet, Ashley N. Turner, Larry W. Johnson, Daniel Kennedy, Ethan R. Downs, Katherine M. Hymel, Alecia K. Gross, Robert A. Kesterson

published 25 May 2016

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Exome Sequencing of a Pedigree Reveals S339L Mutation in the TLN2 Gene as a Cause of Fifth Finger Camptodactyly

Hao Deng, Sheng Deng, Hongbo Xu, Han-Xiang Deng, Yulan Chen, Lamei Yuan, Xiong Deng, Shengbo Yang, Liping Guan, Jianguo Zhang, Hong Yuan, Yi Guo

published 25 May 2016

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Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences

Kohei Fujikura

published 24 May 2016

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Interferon-α Revisited: Individualized Treatment Management Eased the Selective Pressure of Tyrosine Kinase Inhibitors on BCR-ABL1 Mutations Resulting in a Molecular Response in High-Risk CML Patients

Vaclava Polivkova, Peter Rohon, Hana Klamova, Olga Cerna, Martina Divoka, Nikola Curik, Jan Zach, Martin Novak, Iuri Marinov, Simona Soverini, Edgar Faber, Katerina Machova Polakova

published 23 May 2016

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Mechanistic Approaches to Improve Correction of the Most Common Disease-Causing Mutation in Cystic Fibrosis

Vedrana Bali, Ahmed Lazrak, Purushotham Guroji, Sadis Matalon, Zsuzsanna Bebok

published 23 May 2016

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Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California

Danieli B. Salinas, Patrick R. Sosnay, Colleen Azen, Suzanne Young, Karen S. Raraigh, Thomas G. Keens, Martin Kharrazi

published 23 May 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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Geno2pheno_[HCV] – A Web-based Interpretation System to Support Hepatitis C Treatment Decisions in the Era of Direct-Acting Antiviral Agents

Prabhav Kalaghatgi, Anna Maria Sikorski, Elena Knops, Daniel Rupp, Saleta Sierra, Eva Heger, Maria Neumann-Fraune, Bastian Beggel, Andreas Walker, Jörg Timm, Hauke Walter, Martin Obermeier, Rolf Kaiser, Ralf Bartenschlager, Thomas Lengauer

published 19 May 2016

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Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex

Saketh Kapoor, Mohd Hussain Shah, Nivedita Singh, Mohammad Iqbal Rather, Vishwanath Bhat, Sindhura Gopinath, Parayil Sankaran Bindu, Arun B. Taly, Sanjib Sinha, Madhu Nagappa, Rose Dawn Bharath, Anita Mahadevan, Gayathri Narayanappa, Yasha T. Chickabasaviah, Arun Kumar

published 19 May 2016

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Novel Mutations in the Voltage-Gated Sodium Channel of Pyrethroid-Resistant Varroa destructor Populations from the Southeastern USA

Joel González-Cabrera, Sonia Rodríguez-Vargas, T. G. Emyr Davies, Linda M. Field, Daniel Schmehl, James D. Ellis, Klemens Krieger, Martin S. Williamson

published 18 May 2016

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Low Mutation Burden in Ovarian Cancer May Limit the Utility of Neoantigen-Targeted Vaccines

Spencer D. Martin, Scott D. Brown, Darin A. Wick, Julie S. Nielsen, David R. Kroeger, Kwame Twumasi-Boateng, Robert A. Holt, Brad H. Nelson

published 18 May 2016

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