Search


Current filters:


Start a new search
Add filters:

Use filters to refine the search results.


Results 1-10 of 10 (Search time: 0.002 seconds).
  • previous
  • 1
  • next
Item hits:
PreviewIssue DateTitleAuthor(s)
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.
2007Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX Consortiumde Brouwer, A.; Yntema, H.; Kleefstra, T.; Lugtenberg, D.; Oudakker, A.; de Vries, B.; van Bokhoven, H.; Van Esch, H.; Frints, S.; Froyen, G.; Fryns, J.; Raynaud, M.; Moizard, M.; Ronce, N.; Bensalem, A.; Moraine, C.; Poirier, K.; Castelnau, L.; Saillour, Y.; Bienvenu, T.; et al.
2007Molecular consequences of dominant Bethlem myopathy collagen VI mutationsBaker, N.; Morgelin, M.; Pace, R.; Peat, R.; Adams, N.; Gardner, R.; Rowland, L.; Miller, G.; De Jonghe, P.; Ceulemans, B.; Hannibal, M.; Edwards, M.; Thompson, E.; Jacobson, R.; Quinlivan, R.; Aftimos, S.; Kornberg, A.; North, K.; Bateman, J.; Lamande, S.
2007Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosisAnderson, P.; Cox, T.; Roscioli, T.; Elakis, G.; Smithers, L.; David, D.; Powell, B.
2007Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapyKarageorgos, L.; Brooks, D.; Harmatz, P.; Ketteridge, D.; Pollard, A.; Melville, E.; Parkinson-Lawrence, E.; Clements, P.; Hopwood, J.
2007Mutations in CUL4B which encodes a ubiquitin E3 ligase subunit cause an X-linked mental retardation syndrome associated with aggressive outbursts seizures relative macrocephaly central obesity hypogonadism pes cavus and tremorTarpey, P.; Raymond, F.; O'Meara, S.; Edkins, S.; Teague, J.; Butler, A.; Dicks, E.; Stevens, C.; Tofts, C.; Avis, T.; Barthorpe, S.; Buck, G.; Cole, J.; Gray, K.; Halliday, K.; Harrison, R.; Hills, K.; Jenkinson, A.; Jones, D.; Menzies, A.; et al.
2007Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factorAli, A.; Christie, P.; Grigorieva, I.; Harding, B.; Van Esch, H.; Ahmed, S.; Bitner-Glindzicz, M.; Blind, E.; Bloch, C.; Christin, P.; Clayton, P.; Gecz, J.; Gilbert-Dussardier, B.; Guillen-Navarro, E.; Hackett, A.; Halac, I.; Hendy, G.; Lalloo, F.; Mache, C.; Mughal, Z.; et al.
2007Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox geneShoubridge, C.; Cloosterman, D.; Parkinson-Lawrence, E.; Brooks, D.; Gecz, J.
2007Aristaless-related homeobox gene, the gene responsible for west syndrome and related disorders, is a groucho/transducin-like enhancer of split dependent transcriptional repressorMcKenzie, O.; Ponte, I.; Mangelsdorf, M.; Finnis, M.; Colasante, G.; Shoubridge, C.; Stifani, S.; Gecz, J.; Broccoli, V.
2007Cancer risks for Australian women with a BRCA1 or a BRCA2 mutationSuthers, G.