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Mutation

Exome Sequencing Analysis Identifies Compound Heterozygous Mutation in ABCA4 in a Chinese Family with Stargardt Disease

Yu Zhou, Siyu Tao, Hui Chen, Lulin Huang, Xiong Zhu, Youping Li, Zhili Wang, He Lin, Fang Hao, Zhenglin Yang, Liya Wang, Xianjun Zhu

published 14 Mar 2014

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Monoallelic Germline TSC1 Mutations Are Permissive for T Lymphocyte Development and Homeostasis in Tuberous Sclerosis Complex Individuals

Karolina Pilipow, Veronica Basso, Nicola Migone, Anna Mondino

published 14 Mar 2014

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An A91V SNP in the Perforin Gene Is Frequently Found in NK/T-Cell Lymphomas

Rebeca Manso, Socorro María Rodríguez-Pinilla, Luis Lombardia, Gorka Ruiz de Garibay, Maria del Mar López, Luis Requena, Lydia Sánchez, Margarita Sánchez-Beato, Miguel Ángel Piris

published 14 Mar 2014

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CCR2 Gene Deletion and Pharmacologic Blockade Ameliorate a Severe Murine Experimental Autoimmune Neuritis Model of Guillain-Barré Syndrome

Furong Yuan, Nejla Yosef, Chetan Lakshmana Reddy, Ailing Huang, Sharon C. Chiang, Hafiza Rahman Tithi, Eroboghene E. Ubogu

published 14 Mar 2014

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Genetic Characterization of Hepatitis C Virus in Long-Term RNA Replication Using Li23 Cell Culture Systems

Nobuyuki Kato, Hiroe Sejima, Youki Ueda, Kyoko Mori, Shinya Satoh, Hiromichi Dansako, Masanori Ikeda

published 13 Mar 2014

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The ToxAvapA Toxin-Antitoxin Locus Contributes to the Survival of Nontypeable Haemophilus influenzae during Infection

Dabin Ren, Alexis A. Kordis, Daniel E. Sonenshine, Dayle A. Daines

published 12 Mar 2014

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Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1

Hidekane Yoshimura, Satoshi Iwasaki, Shin-ya Nishio, Kozo Kumakawa, Tetsuya Tono, Yumiko Kobayashi, Hiroaki Sato, Kyoko Nagai, Kotaro Ishikawa, Tetsuo Ikezono, Yasushi Naito, Kunihiro Fukushima, Chie Oshikawa, Takashi Kimitsuki, Hiroshi Nakanishi, Shin-ichi Usami

published 11 Mar 2014

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The Superintegron Integrase and the Cassette Promoters Are Co-Regulated in Vibrio cholerae

Evelyne Krin, Guillaume Cambray, Didier Mazel

published 10 Mar 2014

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Mutations in CG8878, a Novel Putative Protein Kinase, Enhance P Element Dependent Silencing (PDS) and Position Effect Variegation (PEV) in Drosophila melanogaster

Allen McCracken, John Locke

published 10 Mar 2014

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Comprehensive Molecular Diagnosis of Bardet-Biedl Syndrome by High-Throughput Targeted Exome Sequencing

Dong-Jun Xing, Hong-Xing Zhang, Na Huang, Kun-Chao Wu, Xiu-Feng Huang, Fang Huang, Yi Tong, Chi-Pui Pang, Jia Qu, Zi-Bing Jin

published 07 Mar 2014

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Activating FLT3 Mutants Show Distinct Gain-of-Function Phenotypes In Vitro and a Characteristic Signaling Pathway Profile Associated with Prognosis in Acute Myeloid Leukemia

Hanna Janke, Friederike Pastore, Daniela Schumacher, Tobias Herold, Karl-Peter Hopfner, Stephanie Schneider, Wolfgang E. Berdel, Thomas Büchner, Bernhard J. Woermann, Marion Subklewe, Stefan K. Bohlander, Wolfgang Hiddemann, Karsten Spiekermann, Harald Polzer

published 07 Mar 2014

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The Tumor Necrosis Factor α (-308 A/G) Polymorphism Is Associated with Cystic Fibrosis in Mexican Patients

Celia N. Sanchez-Dominguez, Miguel A. Reyes-Lopez, Adriana Bustamante, Ricardo M. Cerda-Flores, Maria del C. Villalobos-Torres, Hugo L. Gallardo-Blanco, Augusto Rojas-Martinez, Herminia G. Martinez-Rodriguez, Hugo A. Barrera-Saldaña, Rocio Ortiz-Lopez

published 06 Mar 2014

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Impact of Pulmonary Arteriovenous Malformations on Respiratory–Related Quality of Life in Patients with Hereditary Haemorrhagic Telangiectasia

Sandra Blivet, Daniel Cobarzan, Alain Beauchet, Mostafa El Hajjam, Pascal Lacombe, Thierry Chinet

published 06 Mar 2014

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