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Entries: 1-4  
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Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.
Authors: Klopocki, E.; Lohan, S.; Brancati, F.; Koll, R.; Brehm, A.; Seemann, P.; Dathe, K.; Stricker, S.; Hecht, J.; Bosse, K.; Betz, R. C.; Garaci, F. G.; Dallapiccola, B.; Jain, M.; Muenke, M.; Ng, V. C.; Chan, W.; Chan, D.; Mundlos, S.
Date of Publication (YYYY-MM-DD): 2011-01-07
Title of Journal: American Journal of Human Genetics
Volume: 88
Issue / Number: 1
Start Page: 70
End Page: 75
Document Type: Article
ID: 538366.0
 
Full text / Content available
Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis
Authors: Timmermann, B.; Kerick, M.; Roehr, C.; Fischer, A.; Isau, M.; Boerno, S. T.; Wunderlich, A.; Barmeyer, C.; Seemann, P.; Koenig, J.; Lappe, M.; Kuss, A. W.; Garshasbi, M.; Bertram, L.; Trappe, K.; Werber, M.; Herrmann, B. G.; Zatloukal, K.; Lehrach, H.; Schweiger, M. R.
Date of Publication (YYYY-MM-DD): 2010-12-10
Title of Journal: PLoS ONE
Volume: 5
Issue / Number: 12
Start Page: e15661
End Page: e15661
Document Type: Article
ID: 548983.0
 
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Deletion and point mutations of PTHLH cause brachydactyly type E.
Authors: Klopocki, E.; Hennig, B. P.; Dathe, K.; Koll, R.; de Ravel, T.; Baten, E.; Blom, E.; Gillerot, Y.; Weigel, J. F.; Krüger, G.; Hiort, O.; Seemann, P.; Mundlos, S.
Date of Publication (YYYY-MM-DD): 2010-03-12
Title of Journal: The American Journal of Human Genetics
Volume: 86
Issue / Number: 3
Start Page: 434
End Page: 439
Document Type: Article
ID: 541871.0
 
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Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome
Authors: Woods, C. G.; Stricker, S.; Seemann, P.; Stern, R.; Cox, J.; Sherridan, E.; Roberts, E.; Springell, K.; Scott, S.; Karbani, G.; Sharif, S. M.; Toomes, C.; Bond, J.; Kumar, D.; Al-Gazali, L.; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2006-08
Title of Journal: American Journal of Human Genetics (Chicago, IL)
Volume: 79
Issue / Number: 2
Start Page: 402
End Page: 408
Document Type: Article
ID: 313095.0
 
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Entries: 1-4  
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