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Mutation

A Novel Missense (M206K) STAT3 Mutation in Diffuse Large B Cell Lymphoma Deregulates STAT3 Signaling

Guangzhen Hu, Thomas E. Witzig, Mamta Gupta

The Risk of Familial Mediterranean Fever in MEFV Heterozygotes: A Statistical Approach

Isabelle Jéru, Véronique Hentgen, [ ... ], Serge Amselem

Combined Patterns of IGHV Repertoire and Cytogenetic/Molecular Alterations in Monoclonal B Lymphocytosis versus Chronic Lymphocytic Leukemia

Ana Henriques, Arancha Rodríguez-Caballero, [ ... ], Alberto Orfao

Novel ATPase Cu²⁺ Transporting Beta Polypeptide Mutations in Chinese Families with Wilson's Disease

Shaojuan Gu, Huarong Yang, [ ... ], Hao Deng

A Heterozygous Deletion Mutation in the Cardiac Sodium Channel Gene SCN5A with Loss- and Gain-of-Function Characteristics Manifests as Isolated Conduction Disease, without Signs of Brugada or Long QT Syndrome

Sven Zumhagen, Marieke W. Veldkamp, [ ... ], Eric Schulze-Bahr

Arabidopsis TRANSCURVATA1 Encodes NUP58, a Component of the Nucleopore Central Channel

Almudena Ferrández-Ayela, María Magdalena Alonso-Peral, [ ... ], María Rosa Ponce

Correlation of Gene Expression and Genome Mutation in Single B-Cells

Joshua A. Weinstein, Xun Zeng, Yueh-Hsiu Chien, Stephen R. Quake

Mitochondrial DNA Reveals Genetic Structuring of Pinna nobilis across the Mediterranean Sea

Daria Sanna, Piero Cossu, [ ... ], Marco Casu

Mutational Analysis of EYA1, SIX1 and SIX5 Genes and Strategies for Management of Hearing Loss in Patients with BOR/BO Syndrome

Mee Hyun Song, Tae-Jun Kwon, [ ... ], Jae Young Choi

Autosomal Recessive Transmission of MYBPC3 Mutation Results in Malignant Phenotype of Hypertrophic Cardiomyopathy

Yilu Wang, Zhimin Wang, [ ... ], Lei Song

Wild-Type Mitochondrial DNA Copy Number in Urinary Cells as a Useful Marker for Diagnosing Severity of the Mitochondrial Diseases

Hui Liu, Yinan Ma, [ ... ], Yu Qi

Axonal Transport Defects in a Mitofusin 2 Loss of Function Model of Charcot-Marie-Tooth Disease in Zebrafish

Anna L. Chapman, Ellen J. Bennett, [ ... ], Andrew J. Grierson

Trends in Genotypic HIV-1 Antiretroviral Resistance between 2006 and 2012 in South African Patients Receiving First- and Second-Line Antiretroviral Treatment Regimens

Gert U. Van Zyl, Tommy F. Liu, [ ... ], Robert W. Shafer

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