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21 results on '"Davis, Elaine C."'

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6. Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

7. Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa

10. Mutations of transforming growth factor β binding protein 4 (LTBP4) results in defective craniofacial extracellular matrix formation in patients with Urban-Rifkin-Davis syndrome

11. Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

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