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Human Molecular Genetics|April 1, 1996
A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1)B Peral, A C Ong, J L San Millán, et al.Human Molecular Genetics|August 1, 1996
The Kallmann syndrome gene product expressed in COS cells is cleaved on the cell surface to yield a diffusible componentE I Rugarli, C Ghezzi, V Valsecchi, et al.Human Molecular Genetics|August 1, 1996
A fine-scale comparison of the human and chimpanzee genomes: linkage, linkage disequilibrium and sequence analysisB Crouau-Roy, S Service, M Slatkin, et al.Human Molecular Genetics|August 1, 1996
Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cellsA el-Amraoui, I Sahly, S Picaud, et al.Human Molecular Genetics|April 22, 2008
Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosisLindsay A Bremer, Scott M Blackman, Lori L Vanscoy, et al.Human Molecular Genetics|April 1, 2008
Endocannabinoid receptor 1 gene variations increase risk for obesity and modulate body mass index in European populationsMichael Benzinou, Jean-Claude Chèvre, Kirsten J Ward, et al.Human Molecular Genetics|April 16, 2008
The S18Y polymorphic variant of UCH-L1 confers an antioxidant function to neuronal cellsElli Kyratzi, Maria Pavlaki, Leonidas StefanisHuman Molecular Genetics|May 13, 2008
Lis1-Nde1-dependent neuronal fate control determines cerebral cortical size and laminationAshley S Pawlisz, Christopher Mutch, Anthony Wynshaw-Boris, et al.Human Molecular Genetics|March 28, 2008
Genetic background conversion ameliorates semi-lethality and permits behavioral analyses in cystathionine beta-synthase-deficient mice, an animal model for hyperhomocysteinemiaNoriyuki Akahoshi, Chiho Kobayashi, Yasuki Ishizaki, et al.Human Molecular Genetics|March 28, 2008
Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controlsJavier Simón-Sánchez, Andrew B SingletonPageof 1,196