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Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype.
Authors: Dutrannoy, V.; Demuth, I.; Baumann, U.; Schindler, D.; Konrat, K.; Neitzel, H.; Gillessen-Kaesbach, G.; Radszewski, J.; Rothe, S.; Schellenberger, M. T.; Nurnberg, G.; Nurnberg, P.; Teik, K. W.; Nallusamy, R.; Reis, A.; Sperling, K.; Digweed, M.; Varon, R.
Date of Publication (YYYY-MM-DD): 2010-07-01
Title of Journal: Human Mutation
Volume: 31
Issue / Number: 9
Start Page: 1059
End Page: 1068
Document Type: Article
ID: 539705.0
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
Authors: Sayer, J. A.; Otto, E. A.; O'Toole, J. F.; Nurnberg, G.; Kennedy, M. A.; Becker, C.; Hennies, H. C.; Helou, J.; Attanasio, M.; Fausett, B. V.; Utsch, B.; Khanna, H.; Liu, Y.; Drummond, I.; Kawakami, I.; Kusakabe, T.; Tsuda, M.; Ma, L.; Lee, H.; Larson, R. G.; Allen, S. J.; Wilkinson, C. J.; Nigg, E. A.; Shou, C. C.; Lillo, C.; Williams, D. S.; Hoppe, B.; Kemper, M. J.; Neuhaus, T.; Parisi, M. A.; Glass, I. A.; Petry, M.; Kispert, A.; Gloy, J.; Ganner, A.; Walz, G.; Zhu, X. L.; Goldman, D.; Nurnberg, P.; Swaroop, A.; Leroux, M. R.; Hildebrandt, F.
Date of Publication (YYYY-MM-DD): 2006-06
Title of Journal: Nature Genetics
Volume: 38
Issue / Number: 6
Start Page: 674
End Page: 681
Document Type: Article
ID: 288007.0
Entries: 1-2  
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