Mutation of HAIRY-AND-ENHANCER-OF-SPLIT-7 in humans causes spondylocostal dysostosis

By Sparrow Duncan B.   Guilln-Navarro Encarna   Fatkin Diane   Dunwoodie Sally L.  

Human Molecular Genetics, Vol. 17, Iss. 23, 2008-12 ,pp. : 3761-3766

Oxford University Press

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A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1

By Payne A.M.  

Human Molecular Genetics, Vol. 7, Iss. 2, 1998-02 ,pp. : 273-277

Oxford University Press

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Notch inhibition by the ligand Delta-Like 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis

By Chapman Gavin   Sparrow Duncan B.   Kremmer Elisabeth   Dunwoodie Sally L.  

Human Molecular Genetics, Vol. 20, Iss. 5, 2011-03 ,pp. : 905-916

Oxford University Press

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A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation

By Sjöberg Gunnar   Saavedra-Matiz Carlos A.  

Human Molecular Genetics, Vol. 8, Iss. 12, 1999-11 ,pp. : 2191-2198

Oxford University Press

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Mapping of locus for autosomal dominant retinitis pigmentosa on chromosome 6q23

By Kannabiran Chitra   Singh Hardeep   Jalali Subhadra  

Human Genetics, Vol. 131, Iss. 5, 2012-05 ,pp. : 717-723

Springer Publishing Company

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