Published in Hum Mol Genet on January 12, 2010
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Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. Am J Hum Genet (2009) 1.58
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Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta. Am J Hum Genet (2013) 1.33
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Using transmission electron microscopy and 3View to determine collagen fibril size and three-dimensional organization. Nat Protoc (2013) 1.31
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Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta. Am J Hum Genet (2012) 1.24
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Applying elastic fibre biology in vascular tissue engineering. Philos Trans R Soc Lond B Biol Sci (2007) 1.01
A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta. Hum Mol Genet (2013) 1.01
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