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Results 1-10 of 52 (Search time: 0.005 seconds).
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PreviewIssue DateTitleAuthor(s)
2007Gene therapy for disorders affecting children progress and potentialAnson, D.; Fletcher, J.
2008X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairmentDibbens, L.; Tarpey, P.; Hynes, K.; Bayly, M.; Scheffer, I.; Smith, R.; Bomar, J.; Sutton, E.; Vandeleur, L.; Shoubridge, C.; Edkins, S.; Turner, S.; Stevens, C.; O'Meara, S.; Tofts, C.; Barthorpe, S.; Buck, G.; Cole, J.; Halliday, K.; Jones, D.; et al.
2008A novel locus for X-linked congenital cataract on Xq24Craig, J.; Friend, K.; Gecz, J.; Rattray, K.; Trotski, M.; Mackey, D.; Burdon, K.
2000New mutations in MID1 provide support for loss of function as the cause of X-linked Optiz syndromeCox, T.; Allen, L.; Cox, L.; Hopwood, B.; Goodwin, B.; Haan, E.; Suthers, G.
2007Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitusRaymond, F.; Tarpey, P.; Edkins, S.; Tofts, C.; O'Meara, S.; Teague, J.; Butler, A.; Stevens, C.; Barthorpe, S.; Buck, G.; Cole, J.; Dicks, E.; Gray, K.; Harrison, R.; Hills, K.; Hinton, J.; Jones, D.; Menzies, A.; Perry, J.; Raine, K.; et al.
2005A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey Disease) expands the spectrum of collagen-related disordersGensure, R.; Makitie, O.; Barclay, C.; Chan, C.; DePalma, S.; Bastepe, M.; Abuzahra, H.; Couper, R.; Mundlos, S.; Sillence, D.; Kokko, L.; Seidman, J.; Cole, W.; Juppner, H.
2000Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndromeVillard, L.; Fontes, M.; Ades, L.; Gecz, J.
2005Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)Wieland, I.; Reardon, W.; Jakubiczka, S.; Franco, B.; Kress, W.; Vincent-Delorme, C.; Theirry, P.; Edwards, M.; Konig, R.; Rusu, C.; Schweiger, S.; Thompson, E.; Tinschert, S.; Stewart, F.; Wieacker, P.
2002Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutationTurner, G.; Partington, M.; Kerr, B.; Mangelsdorf, M.; Gecz, J.
2004Identification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasiaShaw, M.; Gecz, J.; McDonough, B.; Hodess, A.; Harter, D.