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Entries: 1-4  
Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy
Authors: Senderek, J.; Krieger, M.; Stendel, C.; Bergmann, C.; Moser, M.; Breitbach-Faller, N.; Rudnik-Schoneborn, S.; Blaschek, A.; Wolf, N. I.; Harting, I.; North, K.; Smith, J.; Muntoni, F.; Brockington, M.; Quijano-Roy, S.; Renault, F.; Herrmann, R.; Hendershot, L. M.; Schroder, J. M.; Lochmuller, H.; Topaloglu, H.; Voit, T.; Weis, J.; Ebinger, F.; Zerres, K.
Date of Publication (YYYY-MM-DD): 2005-12
Title of Journal: Nature Genetics
Volume: 37
Issue / Number: 12
Start Page: 1312
End Page: 1314
Document Type: Article
ID: 261730.0
A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD)
Authors: Moser, M.; Matthiesen, S.; Kirfel, J.; Schorle, H.; Bergmann, C.; Senderek, J.; Rudnik-Schoneborn, S.; Zerres, K.; Buettner, R.
Date of Publication (YYYY-MM-DD): 2005-05
Title of Journal: Hepatology
Volume: 41
Issue / Number: 5
Start Page: 1113
End Page: 1121
Document Type: Article
ID: 254903.0
New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene
Authors: Zerres, K.; Senderek, J.; Rudnik-Schoneborn, S.; Eggermann, T.; Kunze, J.; Mononen, T.; Kaariainen, H.; Kirfel, J.; Moser, M.; Buettner, R.; Bergmann, C.
Date of Publication (YYYY-MM-DD): 2004
Title of Journal: Clinical Genetics
Volume: 66
Start Page: 53
End Page: 57
Document Type: Article
ID: 226621.0
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)
Authors: Bergmann, C.; Senderek, J.; Sedlacek, B.; Pegiazoglou, I.; Puglia, P.; Eggermann, T.; Rudnik-Schoneborn, S.; Furu, L.; Onuchic, L. F.; De Baca, M.; Germino, G. G.; Guay-Woodford, L.; Somlo, S.; Moser, M.; Buttner, R.; Zerres, K.
Date of Publication (YYYY-MM-DD): 2003-01
Title of Journal: Journal of the American Society of Nephrology
Volume: 14
Issue / Number: 1
Start Page: 76
End Page: 89
Document Type: Article
ID: 35334.0
Entries: 1-4  
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