Molecular Genetic Medicine

Por Wilkie, A O M
Publicado em 1995

Ethical review of research into rare genetic disorders

Por Parker, M, Ashcroft, R, Wilkie, A O M, Kent, A
Publicado em 2004

Cellular correlates of selfish spermatogonial selection

Por Maher, G. J., Rajpert‐De Meyts, E., Goriely, A., Wilkie, A. O. M.
Publicado no Andrology (2016)

Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery

Por Furniss, D, Kan, S-h, Taylor, I B, Johnson, D, Critchley, P S, Giele, H P, Wilkie, A O M
Publicado em 2009

A New Subtype of Brachydactyly Type B Caused by Point Mutations in the Bone Morphogenetic Protein Antagonist NOGGIN

Por Lehmann, K. , Seemann, P. , Silan, F. , Goecke, T. O. , Irgang, S. , Kjaer, K. W. , Kjaergaard, S. , Mahoney, M. J. , Morlot, S. , Reissner, C. , Kerr, B. , Wilkie, A. O. M. , Mundlos, S. 
Publicado em 2007

Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1

Por van den Elzen, M E P, Twigg, S R F, Goos, J A C, Hoogeboom, A J M, van den Ouweland, A M W, Wilkie, A O M, Mathijssen, I M J
Publicado em 2014

Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism

Por Twigg, S.R.F., Ousager, L.B., Miller, K.A., Zhou, Y., Elalaoui, S.C., Sefiani, A., Bak, G.S, Hove, H., Hansen, L.K., Fagerberg, C.R., Tajir, M., Wilkie, A.O.M.
Publicado no Clin Genet (2016)

Clinical features and molecular analysis of the α thalassemia/mental retardation syndromes. 1. Cases due to deletions involving chromosome band 16p13.3

Por Wilkie, A. O. M., Buckle, V. J., Harris, P. C., Lamb, J., Barton, N. J., Reeders, S. T., Lindenbaum, R. H., Nicholls, R. D., Barrow, M., Bethlenfalvay, N. C., Hutz, M. H., Tolmie, J. L., Weatherall, D. J., Higgs, D. R.
Publicado em 1990

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome

Por Muenke, M., Gripp, K. W., McDonald-McGinn, D. M., Gaudenz, K., Whitaker, L. A., Bartlett, S. P., Markowitz, R. I., Robin, N. H., Nwokoro, N., Mulvihill, J. J., Losken, H. W., Mulliken, J. B., Guttmacher, A. E., Wilroy, R. S., Clarke, L. A., Hollway, G., Adès, L. C., Haan, E. A., Mulley, J. C., Cohen, M. M., Bellus, G. A., Francomano, C. A., Moloney, D. M., Wall, S. A., Wilkie, A. O. M., Zackai, E. H.
Publicado em 1997

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

Por Koolen, D A, Sharp, A J, Hurst, J A, Firth, H V, Knight, S J L, Goldenberg, A, Saugier-Veber, P, Pfundt, R, Vissers, L E L M, Destrée, A, Grisart, B, Rooms, L, Aa, N Van der, Field, M, Hackett, A, Bell, K, Nowaczyk, M J M, Mancini, G M S, Poddighe, P J, Schwartz, C E, Rossi, E, De Gregori, M, Antonacci-Fulton, L L, McLellan, M D, Garrett, J M, Wiechert, M A, Miner, T L, Crosby, S, Ciccone, R, Willatt, L, Rauch, A, Zenker, M, Aradhya, S, Manning, M A, Strom, T M, Wagenstaller, J, Krepischi-Santos, A C, Vianna-Morgante, A M, Rosenberg, C, Price, S M, Stewart, H, Shaw-Smith, C, Brunner, H G, Wilkie, A O M, Veltman, J A, Zuffardi, O, Eichler, E E, de Vries, B B A
Publicado em 2008