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Entries: 1-5  
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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
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
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome
Authors: Seifert, W.; Holder-Espinasse, M.; Spranger, S.; Hoeltzenbein, Maria; Rossier, E.; Dollfus, H.; Lacombe, H.; Verloes, A.; Chrzanowska, K. H.; Maegawa, G. H. B.; Chitayat, D.; Kotzot, D.; Huhle, D.; Meinecke, P.; Albrecht, B.; Mathijssen, I.; Leheup, B.; Raile, K.; Hennies, H. C.; Horn, D.
Date of Publication (YYYY-MM-DD): 2006-01-25
Title of Journal: Journal of Medical Genetics
Volume: 43
Issue / Number: 5
Start Page: e22
End Page: e22
Document Type: Article
ID: 308496.0
 
Full text / Content available
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
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.; Nürnberg, P.
Date of Publication (YYYY-MM-DD): 2004-03
Title of Journal: Journal of Medical Genetics
Volume: 41
Issue / Number: 3
Start Page: 213
End Page: 218
Document Type: Article
ID: 228873.0
Entries: 1-5  
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