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

By  

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

Karger

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Length polymorphism of integrated copies of R1 and R2 retrotransposons in the German cockroach (Blattella germanica) as a potential marker for population and phylogenetic studies

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Russian Journal of Genetics, Vol. 42, Iss. 4, 2006-04 ,pp. : 397-401

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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

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Mutations in the C-Terminal Domain of Sonic Hedgehog Cause Holoprosencephaly

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Human Molecular Genetics, Vol. 6, Iss. 11, 1997-10 ,pp. : 1847-1853

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Functional analysis of Peutz–Jeghers mutations reveals that the LKB1 C-terminal region exerts a crucial role in regulating both the AMPK pathway and the cell polarity

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