Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin , a large novel gene

By Davy Brian E.   Robinson Michael L.  

Human Molecular Genetics, Vol. 12, Iss. 10, 2003-05 ,pp. : 1163-1170

Oxford University Press

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Ocular defects associated with a null mutation in the mouse arylamine N -acetyltransferase 2 gene

By Wakefield Larissa   Long Hilary   Lack Nathan   Sim Edith  

Mammalian Genome, Vol. 18, Iss. 4, 2007-04 ,pp. : 270-276

Springer Publishing Company

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A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia

By Monnier Nicole  

Human Molecular Genetics, Vol. 12, Iss. 10, 2003-05 ,pp. : 1171-1178

Oxford University Press

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Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1 , a novel gene involved in floor plate specification

By Doudney K.   Stanier P.   Murdoch J.N.   Paternotte C.   Copp A.J.  

Human Molecular Genetics, Vol. 10, Iss. 22, 2001-10 ,pp. : 2593-2601

Oxford University Press

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An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor

By Monnier Nicole  

Human Molecular Genetics, Vol. 9, Iss. 18, 2000-11 ,pp. : 2599-2608

Oxford University Press

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