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Human Molecular Genetics, Vol. 13, No. 22 © Oxford University Press 2004; all rights reserved
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Allelic expression of APOE in human brain: effects of epsilon status and promoter haplotypes
Filamin C interacts with the muscular dystrophy KY protein and is abnormally distributed in mouse KY deficient muscle fibres
Epigenetic loss of the familial tumor-suppressor gene exostosin-1 (EXT1) disrupts heparan sulfate synthesis in cancer cells
l-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1
Pituitary hypoplasia and respiratory distress syndrome in Prop1 knockout mice
Evidence and characteristics of putative human α recombination hotspots
Heightened susceptibility to chronic gastritis, hyperplasia and metaplasia in Kcnq1 mutant mice
The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis
Evolution of the tumor suppressor BRCA1 locus in primates: implications for cancer predisposition
Defective recombination in infertile men
Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model
Establishing the epigenetic status of the Prader-Willi/Angelman imprinting center in the gametes and embryo
The mouse dystrophin muscle enhancer-1 imparts skeletal muscle, but not cardiac muscle, expression onto the dystrophin Purkinje promoter in transgenic mice
The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons
β-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities
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