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Nonsense mutation

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

Genomic Profiling Identifies Novel Mutations and SNPs in ABCD1 Gene: A Molecular, Biochemical and Clinical Analysis of X-ALD Cases in India

Neeraj Kumar, Krishna Kant Taneja, [ ... ], Surendra Kumar Bansal

Angiomyolipoma Have Common Mutations in TSC2 but No Other Common Genetic Events

Wei Qin, Vineeta Bajaj, [ ... ], David J. Kwiatkowski

Ubiquitin Ligases of the N-End Rule Pathway: Assessment of Mutations in UBR1 That Cause the Johanson-Blizzard Syndrome

Cheol-Sang Hwang, Maja Sukalo, [ ... ], Martin Zenker

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