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Nonsense mutation

Foxp2 Mutations Impair Auditory-Motor Association Learning

Simone Kurt, Simon E. Fisher, Günter Ehret

Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy

Mei Hong Tan, Donna S. Mackay, [ ... ], Anthony T. Moore

Functional Studies of MLC1 Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts

Han Xie, Jingmin Wang, [ ... ], Yuwu Jiang

Challenges in Whole Exome Sequencing: An Example from Hereditary Deafness

Asli Sirmaci, Yvonne J. K. Edwards, Hatice Akay, Mustafa Tekin

Two Novel Mutations in the EYS Gene Are Possible Major Causes of Autosomal Recessive Retinitis Pigmentosa in the Japanese Population

Katsuhiro Hosono, Chie Ishigami, [ ... ], Yoshihiro Hotta

Comparative Genomics of 2009 Seasonal Plague (Yersinia pestis) in New Mexico

Henry S. Gibbons, Michael D. Krepps, [ ... ], Evan Skowronski

Brd1 Gene in Maize Encodes a Brassinosteroid C-6 Oxidase

Irina Makarevitch, Addie Thompson, Gary J. Muehlbauer, Nathan M. Springer

Genetic and Epigenetic Alterations of the NF2 Gene in Sporadic Vestibular Schwannomas

Jong Dae Lee, Tae Jun Kwon, Un-Kyung Kim, Won-Sang Lee

HIV Pol Inhibits HIV Budding and Mediates the Severe Budding Defect of Gag-Pol

Xin Gan, Stephen J. Gould

Genetic Complexity of Fusidic Acid-Resistant Small Colony Variants (SCV) in Staphylococcus aureus

Jonas Lannergård, Sha Cao, [ ... ], Diarmaid Hughes

Antigenic, Immunologic and Genetic Characterization of Rough Strains B.abortus RB51, B.melitensis B115 and B.melitensis B18

Rosanna Adone, Michele Muscillo, [ ... ], Michela Tarantino

Mutation Analysis of NR5A1 Encoding Steroidogenic Factor 1 in 77 Patients with 46, XY Disorders of Sex Development (DSD) Including Hypospadias

Slimane Allali, Jean-Baptiste Muller, [ ... ], Anu Bashamboo

The Immunophilin-Like Protein XAP2 Is a Negative Regulator of Estrogen Signaling through Interaction with Estrogen Receptor α

Wen Cai, Tatiana V. Kramarova, [ ... ], Ingemar Pongratz

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