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Entries: 1-9  
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Czech dysplasia: report of a large family and further delineation of the phenotype
Authors: Tzschach, Andreas; Tinschert, Sigrid; Kaminsky, Elke; Lusga, Eugen; Mundlos, Stefan; Graul-Neumann, Luitgard M.
Date of Publication (YYYY-MM-DD): 2008-06-13
Title of Journal: American Journal of Medical Genetics Part A
Volume: 146A
Issue / Number: 14
Start Page: 1859
End Page: 1864
Document Type: Article
ID: 411279.0
Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation
Authors: Nuber, Ulrike A.; Tinschert, Sigrid; Mundlos, Stefan; Hausser, Ingrid
Date of Publication (YYYY-MM-DD): 2004-03-15
Title of Journal: American Journal of Medical Genetics Part A
Volume: 125A
Issue / Number: 3
Start Page: 261
End Page: 266
Document Type: Article
ID: 175330.0
Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation
Authors: Nuber, Ulrike A.; Tinschert, Sigrid; Mundlos, Stefan; Hauber, Ingrid
Date of Publication (YYYY-MM-DD): 2004-03-15
Title of Journal: American Journal of Medical Genetics Part A
Volume: 125A
Issue / Number: 3
Start Page: 261
End Page: 266
Document Type: Article
ID: 225128.0
Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation
Authors: Nuber, Ulrike A.; Tinschert, Sigrid; Mundlos, Stefan; Hauber, Ingrid
Date of Publication (YYYY-MM-DD): 2004-03-15
Title of Journal: American Journal of Medical Genetics Part A
Volume: 125A
Issue / Number: 3
Start Page: 261
End Page: 266
Document Type: Article
ID: 228773.0
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes
Authors: Tuerkmen, Seval; Gillessen-Kaesbach, Gabriele; Meinecke, Peter; Albrecht, Beate; Neumann, Luitgard M.; Hesse, Volker; Palanduz, Suekrue; Balg, Stefanie; Majewski, Frank; Fuchs, Sigrun; Zschieschang, Petra; Greiwe, Monika; Mennicke, Kirsteen; Kreuz, Friedmar R.; Dehmel, Harald J.; Rodeck, Burkhard; Kunze, Juergen; Tinschert, Sigrid; Mundlos, Stefan; Horn, Denise
Date of Publication (YYYY-MM-DD): 2003-11
Title of Journal: European Journal of Human Genetics
Volume: 11
Issue / Number: 11
Start Page: 858
End Page: 865
Document Type: Article
ID: 175489.0
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2
Authors: Lehmann, Katarina; Seemann, Petra; Stricker, Sigmar; Sammar, Marai; Meyer, Birgit; Suering, Katrin; Majewski, Frank; Tinschert, Sigrid; Grzeschik, Karl-Heinz H.; Mueller, Dietmar; Knaus, Petra; Nurnberg, Peter; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2003-10-14
Title of Journal: Proceedings of the National Academy of Sciences of the United States of America
Volume: 100
Issue / Number: 21
Start Page: 12277
End Page: 12282
Document Type: Article
ID: 174918.0
Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome)
Authors: Knoblauch, Hans; Tennstedt, Cornelia; Brueck, Wolfgang; Hammer, Hannes; Vulliamy, Tom; Dokal, Inderjeet; Lehmann, Rüdiger; Hanefeld, Folker; Tinschert, Sigrid
Date of Publication (YYYY-MM-DD): 2003-07
Title of Journal: American Journal of Medical Genetics
Volume: 120A
Issue / Number: 2
Start Page: 261
End Page: 265
Document Type: Article
ID: 178164.0
Antenatal onset of cortical hyperostosis (Caffey disease): Case report and review
Authors: Schweiger, Susann; Chaoui, Rabih; Tennstedt, Cornelia; Lehmann, Katarina; Mundlos, Stefan; Tinschert, Sigrid
Date of Publication (YYYY-MM-DD): 2003-03-26
Title of Journal: American Journal of Medical Genetics Part A
Volume: 120A
Issue / Number: 4
Start Page: 547
End Page: 552
Document Type: Article
ID: 127846.0
Segmental Neurofibromatosis
Authors: Schultz, Erwin S.; Kaufmann, Dieter; Tinschert, Sigrid; Schell, Hermann; von den Driesch, Peter; Schuler, Gerold
Date of Publication (YYYY-MM-DD): 2002-04
Title of Journal: Dermatology
Volume: 204
Issue / Number: 4
Start Page: 296
End Page: 297
Document Type: Article
ID: 25786.0
Entries: 1-9  
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