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By Brown A.L.   Kay G.F.  

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Oxford University Press

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Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility

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Human Molecular Genetics, Vol. 18, Iss. 6, 2009-03 ,pp. : 1099-1109

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A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration

By Maw Marion A.   Corbeil Denis  

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CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia

By Zhou Guang   Chen Yuqing   Zhou Lei   Thirunavukkarasu Kannan   Hecht Jacqueline  

Human Molecular Genetics, Vol. 8, Iss. 12, 1999-11 ,pp. : 2311-2316

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Alterations in the expression, structure and function of progesterone receptor membrane component-1 ( PGRMC1 ) in premature ovarian failure

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Human Molecular Genetics, Vol. 17, Iss. 23, 2008-12 ,pp. : 3776-3783

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