Waardenburg syndrome von Read, A P, Newton, V E

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Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis von James, Jacqueline, Davies, Robin, Read, Andrew P, Roberts, Emma, Woods, C. Geoffrey, Wood, A. Joseph, McCormick, Derek, Hewitt, Chelsee, Ghaffar, Khaled Abdul, Thakker, Nalin S, Widmer, Richard, Wong, Melanie, Sloan, Philip, Lench, Nicholas, Hussein, Ibtessam Ramzy, Pemberton, Michael, Dixon, Michael J, Markham, Alexander, Temtamy, Samia A, Wu, Chu Lee, Toomes, Carmel, Moynihan, Leanne

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Apparent prevention of neural tube defects by periconceptional vitamin supplementation von Smithells, RW, Sheppard, S, Schorah, CJ, Seller, MJ, Nevin, NC, Harris, R, Read, AP, Fielding, DW

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SOX10 mutations in patients with Waardenburg-Hirschsprung disease von Pingault, Véronique, Hermans-Borgmeyer, Irm, Puliti, Aldamaria, Goerich, Derk E, Read, Andrew P, Wegner, Michael, Herbarth, Beate, Goossens, Michel, Kuhlbrodt, Kirsten, Matthijs, Gert, Ceccherini, Isabella, Smith, Jill Clayton, Bondurand, Nadège, Amiel, Jeanne, Romeo, Giovanni, Lyonnet, Stanislas, Préhu, Marie-Odette, Legius, Eric

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A Molecular Analysis of the Yemenite Deaf-Blind Hypopigmentation Syndrome: SOX10 Dysfunction Causes Different Neurocristopathies von Bondurand, Nadège, Kuhlbrodt, Kirsten, Pingault, Véronique, Enderich, Janna, Sajus, Marc, Tommerup, Niels, Warburg, Mette, Hennekam, Raoul C. M., Read, Andrew P., Wegner, Michael, Goossens, Michel

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Mutations in PAX1 may be associated with Klippel-Feil syndrome von MCGAUGHRAN, J. M, OATES, A, DONNAI, D, READ, A. P, TASSABEHJI, M

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Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome von Karmiloff-Smith, A, Grant, J, Ewing, S, Carette, M J, Metcalfe, K, Donnai, D, Read, A P, Tassabehji, M

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The mutational spectrum in Waardenburg syndrome von Tassabehji, Mayada, Newton, Valerie E., Liu, Xue-Zhong, Brady, Angela, Donnai, Dian, Krajewska-Walasek, Malgorzata, Murday, Victoria, Norman, Andrew, Obersztyn, Ewa, Reardon, William, Rice, John C., Trembath, Richard, Wieacker, Peter, Whiteford, Margo, Winter, Robin, Read, Andrew P.

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Abnormal gonadal morphology in intersex, Echinogammarus marinus (Amphipoda): a possible cause of reduced fecundity? von Ford, A. T, Rodgers-Gray, T. P, Davies, I. M, Dunn, A. M, Read, P. A, Robinson, C. D, Smith, J. E, Fernandes, T. F

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The costs of intersexuality: a crustacean perspective von FORD, A. T, FERNANDES, T. F, READ, P. A, ROBINSON, C. D, DAVIES, I. M

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An Elastin Gene Mutation Producing Abnormal Tropoelastin and Abnormal Elastic Fibres in a Patient with Autosomal Dominant Cutis Laxa von Tassabehji, Mayada, Metcalfe, Kay, Hurst, Jane, Ashcroft, Gillian S., Kielty, Cay, Wilmot, Carrie, Donnai, Dian, Read, Andrew P., Jones, Carolyn J. P.

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Novel Mutations in the 1α‐Hydroxylase (P450c1) Gene in Three Families with Pseudovitamin D–Deficiency Rickets Resulting in Loss of Functional Enzyme Activity in Blood‐Derived Macro... von Smith, S. J., Rucka, A. K., Berry, J. L., Davies, M., Mylchreest, S., Paterson, C. R., Heath, D. A., Tassabehji, M., Read, A. P., Mee, A. P., Mawer, E. B.

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Elastin: Genomic Structure and Point Mutations in Patients with Supravalvular Aortic Stenosis von Tassabehji, Mayada, Metcalfe, Kay, Donnai, Dian, Hurst, Jane, Reardon, William, Burch, Michael, Read, Andrew P.

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Brachydactyly and mental retardation : an albright hereditary osteodystrophy-like syndrome localized to 2q37 von WILSON, L. C, LEVERTON, K, TREMBATH, R. C, OUDE LUTTIKHUIS, M. E. M, OLEY, C. A, FLINT, J, WOLSTENHOLME, J, DUCKETT, D. P, BARROW, M. A, LEONARD, J. V, READ, A. P

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Coinheritance of two rare genodermatoses (Papillon–Lefèvre syndrome and oculocutaneous albinism type 1) in two families: a genetic study von Hewitt, C., Wu, C‐L., Hattab, F.N., Amin, W., Ghaffar, K.A., Toomes, C., Sloan, P., Read, A.P., James, J.A., Thakker, N.S.

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Dynamic changes in arousal threshold during sleep in the human infant von READ, P. A, HORNE, R. S. C, CRANAGE, S. M, WALKER, A. M, WALKER, D. W, ADAMSON, T. M

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PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse von Tassabehjl, M., Newton, V. E., Leverton, K., Turnbull, K., Seemanova, E., Kunze, J., Sperling, K., Strachan, T., Read, A. P.

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SLUG (SNAI2) deletions in patients with Waardenburg disease von Sánchez-Martín, Manuel, Rodríguez-García, Arancha, Pérez-Losada, Jesús, Sagrera, Ana, Read, Andrew P., Sánchez-García, Isidro

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Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene von Tassabehji, M, Newton, V E, Read, A P

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The recovery of populations of dogwhelks suffering from imposex in the Firth of Forth 1987–1997/98 von Miller, K.L, Fernandes, T.F, Read, P.A

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