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Oxford University Press

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Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families

By Olsson H.  

Human Molecular Genetics, Vol. 10, Iss. 4, 2001-02 ,pp. : 353-360

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Geleophysic dysplasia: A novel in‐frame deletion of a tandem repeat in the ADAMTSL2 gene

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American Journal Of Medical Genetics Part A, Vol. 167, Iss. 8, 2015-08 ,pp. : 1949-1951

John Wiley & Sons Inc

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Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor

By Monnier N.  

Human Molecular Genetics, Vol. 10, Iss. 22, 2001-10 ,pp. : 2581-2592

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The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis

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Human Molecular Genetics, Vol. 14, Iss. 18, 2005-09 ,pp. : 2619-2627

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