Search


Current filters:



Start a new search
Add filters:

Use filters to refine the search results.


Results 11-16 of 16 (Search time: 0.002 seconds).
Item hits:
PreviewIssue DateTitleAuthor(s)
2007An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in Exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlationUpadyaya, M.; Huson, S.; Davies, M.; Thomas, N.; Chuzhanova, N.; Giovannini, S.; Evans, D.; Howard, E.; Kerr, B.; Kerr, B.; Consoli, C.; Side, L.; Adams, D.; Pierpont, M.; Hatchen, R.; Barnicoat, A.; Li, H.; Wallace, P.; Van Biervliet, J.; Stevenson, D.; 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.
2007Sudden infant death syndrome (SIDS) - Standardised investigations and classification: RecommendationsBajanowski, T.; Vege, A.; Byard, R.; Krous, H.; Arnestad, M.; Bachs, L.; Banner, J.; Blair, P.; Borthne, A.; Dettmeyer, R.; Fleming, P.; Gaustad, P.; Gregersen, M.; Grogaard, J.; Holter, E.; Isaksen, C.; Jorgensen, J.; de Lange, C.; Madea, B.; Moore, I.; et al.
2007A multicenter study of BRD2 as a risk factor for juvenile myoclonic epilepsyCavalleri, G.; Walley, N.; Soranzo, N.; Mulley, J.; Doherty, C.; Kapoor, A.; Depondt, C.; Lynch, J.; Scheffer, I.; Heils, A.; Gehrmann, A.; Kinirons, P.; Gandhi, S.; Satishchandra, P.; Wood, N.; Anand, A.; Sander, T.; Berkovic, S.; Delanty, N.; Goldstein, D.; et al.
2007A physical map of the bovine genomeSnelling, W.; Chiu, R.; Schein, J.; Hobbs, M.; Abbey, C.; Adelson, D.; Aerts, J.; Bennett, G.; Bosdet, I.; Boussaha, M.; Brauning, R.; Caetano, A.; Costa, M.; Crawford, A.; Dalrymple, B.; Eggen, A.; Everts-van der Wind, A.; Floriot, S.; Gautier, M.; Gill, C.; et al.
2007Pathology features in Bethesda guidelines predict colorectal cancer microsatellite instability: A population-based studyJenkins, M.; Hayashi, S.; O'Shea, A.; Burgart, L.; Smyrk, T.; Shimizu, D.; Waring, P.; Ruszkiewicz, A.; Pollett, A.; Redston, M.; Barker, M.; Baron, J.; Casey, G.; Dowty, J.; Giles, G.; Limburg, P.; Newcomb, P.; Young, J.; Walsh, M.; Thibodeau, S.; et al.