The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly

By Nanni Luisa  

Human Molecular Genetics, Vol. 8, Iss. 13, 1999-12 ,pp. : 2479-2488

Oxford University Press

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Expression of the Sonic hedgehog ( SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly

By Odent S.   Attié-Bitach T.  

Human Molecular Genetics, Vol. 8, Iss. 9, 1999-09 ,pp. : 1683-1689

Oxford University Press

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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

Oxford University Press

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In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome

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Molecular Syndromology, Vol. 2, Iss. 6, 2012-03 ,pp. : 237-244

Karger

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Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis

By Müller C.R.  

Human Molecular Genetics, Vol. 10, Iss. 25, 2001-12 ,pp. : 2879-2887

Oxford University Press

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