Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis by David Kelsell, P., Elizabeth Norgett, E., Unsworth, Harriet, Teh, Muy-Teck, Cullup, Thomas, Mein, Charles A., Patricia Dopping-Hepenstal, J., Beverly Dale, A., Tadini, Gianluca, Fleckman, Philip, Karen Stephens, G., Virginia Sybert, P., Susan Mallory, B., Bernard North, V., David Witt, R., Sprecher, Eli, E. M. Taylor, Aileen, Ilchyshyn, Andrew, Cameron Kennedy, T., Goodyear, Helen, Moss, Celia, Paige, David, John Harper, I., Bryan Young, D., Irene Leigh, M., Robin Eady, A.J., Edel O’Toole, A.

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A functional "knockout" of human keratin 14 by Rugg, E L, McLean, W H, Lane, E B, Pitera, R, McMillan, J R, Dopping-Hepenstal, P J, Navsaria, H A, Leigh, I M, Eady, R A

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G28 A Novel Missense Mutation in Keratin 1 Underlying Clinically Mild Epidermolytic Ichthyosis Mimicking Epidermolysis Bullosa Simplex Superficialis by MacKenzie, AI, Dopping-Hepenstal, PJ, Ozoemena, L, Liu, L, Stone, K, Simpson, MA, McGrath, JA, Martinez, AE, Mellerio, JE

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Descemet's membrane in the iridocorneal-endothelial syndrome: Morphology and composition by Levy, S.G., McCartney, A.C.E., Sawada, H., Dopping-Hepenstal, P.J.C., Alexander, R.A., Moss, J.

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Expression in Yeast of Amino-Terminal Peptide Fusions to Hepatitis B Core Antigen and Their Immunological Properties by Beesley, K.M., Francis, M.J., Clarke, B.E., Beesley, J.E., Dopping-Hepenstal, P.J.C., Clare, J.J., Brown, F., Romanos, M.A.

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Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility by McGrath, John A., Stone, Kristina L., Begum, Rumena, Simpson, Michael A., Dopping-Hepenstal, Patricia J., Liu, Lu, McMillan, James R., South, Andrew P., Pourreyron, Celine, McLean, W.H. Irwin, Martinez, Anna E., Mellerio, Jemima E., Parsons, Maddy

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Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1) by Hamada, Takahiro, McLean, W. H. Irwin, Ramsay, Michele, Ashton, Gabrielle H. S., Nanda, Arti, Jenkins, Trefor, Edelstein, Isobel, South, Andrew P., Bleck, Oliver, Wessagowit, Vesarat, Mallipeddi, Rajeev, Orchard, Guy E., Wan, Hong, Dopping-Hepenstal, Patricia J. C., Mellerio, Jemima E., Whittock, Neil V., Munro, Colin S., van Steensel, Maurice A. M., Steijlen, Peter M., Ni, Jian, Zhang, Lurong, Hashimoto, Takashi, Eady, Robin A. J., McGrath, John A.

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Neonatal diagnosis of Kindler syndrome by Fassihi, Hiva, Wessagowit, Vesarat, Jones, Catherine, Dopping-Hepenstal, Patricia, Denyer, Jackie, Mellerio, Jemima E., Clark, Sheila, McGrath, John A.

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