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Human Molecular Genetics|October 1, 1993
Protein truncation test (PTT) for rapid detection of translation-terminating mutationsP A Roest, R G Roberts, S Sugino, et al.
Human Molecular Genetics|December 17, 2005
Xcat, a novel mouse model for Nance-Horan syndrome inhibits expression of the cytoplasmic-targeted Nhs1 isoformKristen M Huang, Junhua Wu, Melinda K Duncan, et al.
Human Molecular Genetics|October 22, 2009
The homeobox gene CHX10/VSX2 regulates RdCVF promoter activity in the inner retinaSacha Reichman, Ravi Kiran Reddy Kalathur, Sophie Lambard, et al.
Human Molecular Genetics|October 22, 2009
Tsc/mTORC1 signaling in oocytes governs the quiescence and activation of primordial folliclesDeepak Adhikari, Wenjing Zheng, Yan Shen, et al.
Human Molecular Genetics|October 22, 2009
SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7Alexandre Janer, Andreas Werner, Junko Takahashi-Fujigasaki, et al.
Human Molecular Genetics|October 22, 2009
PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylaseChristoph Loenarz, Wei Ge, Mathew L Coleman, et al.
Human Molecular Genetics|October 22, 2009
Proteotoxic stress increases nuclear localization of ataxin-3Christopher P Reina, Xiaoyan Zhong, Randall N Pittman
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