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Human Molecular Genetics|May 1, 1994
The sequence organization of the long arm pseudoautosomal region of the human sex chromosomesK Kvaløy, F Galvagni, W R Brown
Human Molecular Genetics|May 1, 1994
Characterization of a novel gene in the human major histocompatibility complex that encodes a potential new member of the I kappa B family of proteinsM R Albertella, R D Campbell
Human Molecular Genetics|November 26, 2009
Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidaseJudith Blanz, Johann Groth, Christina Zachos, et al.
Human Molecular Genetics|October 30, 2009
Sporadic ALS has compartment-specific aberrant exon splicing and altered cell-matrix adhesion biologyStuart J Rabin, Jae Mun Hugo Kim, Michael Baughn, et al.
Human Molecular Genetics|November 28, 2009
Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in miceMaoqing Ye, Chris Coldren, Xingqun Liang, et al.
Human Molecular Genetics|December 4, 2009
Zebrafish models for human FKRP muscular dystrophiesGenri Kawahara, Jeffrey R Guyon, Yukio Nakamura, et al.
Human Molecular Genetics|December 4, 2009
Zebrafish Rpgr is required for normal retinal development and plays a role in dynein-based retrograde transport processesXinhua Shu, Zhiqiang Zeng, Philippe Gautier, et al.
Human Molecular Genetics|January 1, 2010
Functional SNP of ARHGEF10 confers risk of atherothrombotic strokeTomonaga Matsushita, Kyota Ashikawa, Koji Yonemoto, et al.
Human Molecular Genetics|January 1, 2010
Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulatorCristina Dallabona, René Massimiliano Marsano, Paola Arzuffi, et al.
Human Molecular Genetics|January 7, 2010
Heart-specific overexpression of CUGBP1 reproduces functional and molecular abnormalities of myotonic dystrophy type 1Misha Koshelev, Satyam Sarma, Roger E Price, et al.
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