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Entries: 1-6  
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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
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin
Authors: Hennies, H. C.; Kornak, U.; Zhang, H. K.; Egerer, J.; Zhang, X.; Seifert, W.; Kuhnisch, J.; Budde, B.; Natebus, M.; Brancati, F.; Wilcox, W. R.; Muller, D.; Kaplan, P. B.; Rajab, A.; Zampino, G.; Fodale, V.; Dallapiccola, B.; Newman, W.; Metcalfe, K.; Clayton-Smith, J.; Tassabehji, M.; Steinmann, B.; Barr, F. A.; Nurnberg, P.; Wieacker, P.; Mundlos, S.
Date of Publication (YYYY-MM-DD): 2008-12
Title of Journal: Nature Genetics
Volume: 40
Issue / Number: 12
Start Page: 1410
End Page: 1412
Document Type: Article
ID: 397157.0
Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells
Authors: Knoll, R.; Postel, R.; Wang, J.; Kratzner, R.; Hennecke, G.; Vacaru, A. M.; Vakeel, P.; Schubert, C.; Murthy, K.; Rana, B. K.; Kube, D.; Knoll, G.; Schafer, K.; Hayashi, T.; Holm, T.; Kimura, A.; Schork, N.; Toliat, M. R.; Nurnberg, P.; Schultheiss, H. P.; Schaper, W.; Schaper, J.; Bos, E.; Den Hertog, J.; van Eeden, F. J.; Peters, P. J.; Hasenfuss, G.; Chien, K. R.; Bakkers, J.
Date of Publication (YYYY-MM-DD): 2007-07-31
Volume: 116
Issue / Number: 5
Start Page: 515
End Page: 525
Document Type: Article
ID: 354748.0
Noncompaction of the Ventricular Myocardium Is Associated with a De Novo Mutation in the beta-Myosin Heavy Chain Gene
Authors: Budde, B. S.; Binner, P.; Waldmuller, S.; Hohne, W.; Blankenfeldt, W.; Hassfeld, S.; Bromsen, J.; Dermintzoglou, A.; Wieczorek, M.; May, E.; Kirst, E.; Selignow, C.; Rackebrandt, K.; Muller, M.; Goody, R. S.; Vosberg, H. P.; Nurnberg, P.; Scheffold, T.
Date of Publication (YYYY-MM-DD): 2007
Volume: 2
Issue / Number: 12
Start Page: e1362
Document Type: Article
ID: 354765.0
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
Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36
Authors: Thiele, H.; McCann, C.; van't Padje, S.; Schwabe, G. C.; Hennies, H. C.; Camera, G.; Opitz, J.; Laxova, R.; Mundlos, S.; Nurnberg, P.
Date of Publication (YYYY-MM-DD): 2004-03-01
Title of Journal: Journal of Medical Genetics
Volume: 41
Issue / Number: 3
Start Page: 213
End Page: 218
Document Type: Article
ID: 178601.0
Entries: 1-6  
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