Coincidence of a Novel KCNJ11 Missense Variant R365H With a Paternally Inherited 6q24 Duplication in a Patient With Transient Neonatal Diabetes

由 Staník, Juraj, Lethby, Mark, Flanagan, Sarah E., Gašperíková, Daniela, Milošovičová, Beata, Lever, Margaret, Bullman, Hilary, Zubcevic, Lejla, Hattersley, Andrew T., Ellard, Sian, Ashcroft, Frances M., Klimeš, Iwar
出版 2008

Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci

由 Turner, Claire Louise Susan, Mackay, Deborah M, Callaway, Jonathan L A, Docherty, Louise E, Poole, Rebecca L, Bullman, Hilary, Lever, Margaret, Castle, Bruce M, Kivuva, Emma C, Turnpenny, Peter D, Mehta, Sarju G, Mansour, Sahar, Wakeling, Emma L, Mathew, Verghese, Madden, Jackie, Davies, Justin H, Temple, I Karen
出版 2010