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Entries: 1-10  
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Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications.
Authors: Bartsch, Oliver; Gebauer, Konstanze; Lechno, Stanislav; van Esch, Hilde; Froyen, Guy; Bonin, Michael; Jörg Seidel, Jörg Seidel; Thamm-Mücke, Barbara; Horn, Denise; Klopock, Eva; Hertzberg, Christoph; Zechner, Ulrich; Haaf, Thomas
Date of Publication (YYYY-MM-DD): 2010-01-15
Title of Journal: American Journal of Medical Genetics Part A
Volume: 152A
Issue / Number: 2
Start Page: 305
End Page: 312,
Document Type: Article
ID: 536214.0
 
Full text / Content available
A restricted spectrum of NRAS mutations causes Noonan syndrome
Authors: Cirstea, Ion C.; Kutsche, Kerstin; Dvorsky, Radovan; Gremer, Lothar; Carta, Claudio; Horn, Denise; Roberts, Amy E.; Lepri, Francesca; Merbitz-Zahradnik, Torsten; König, Rainer; Kratz, Christian P.; Pantaleoni, Francesca; Dentici, Maria L.; Joshi, Victoria A.; Kucherlapati, Raju S.; Mazzanti, Laura; Mundlos, Stefan; Patton, Michael A.; Silengo, Margherita Cirillo; Rossi, Cesare; Zampino, Giuseppe; Digilio, Cristina; Stuppia, Liborio; Seemanova, Eva; Pennacchio, Len A.; Gelb, Bruce D.; Dallapiccola, Bruno; Wittinghofer, Alfred; Ahmadian, Mohammad R.; Tartaglia, Marco; Zenker, Martin
Date of Publication (YYYY-MM-DD): 2010-01
Title of Journal: Nature Genetics
Volume: 42
Issue / Number: 1
Start Page: 27
End Page: 29
Sequence Number of Article: 1
Document Type: Article
ID: 442399.0
Clinical Diagnostics with Semantic Similarity Searches in Ontologies.
Authors: Köhler, Sebastian; Schulz, Marcel H.; Bauer, Sebastian; Dölken, Sandra; Ott, Claus E.; Mundlos, Christine; Horn, Denise; Mundlos, Stefan; Robinson, Peter N.
Date of Publication (YYYY-MM-DD): 2009-10-01
Title of Journal: The American Journal of Human Genetics
Volume: 85
Issue / Number: 4
Start Page: 457
End Page: 464
Document Type: Article
ID: 447350.0
 
Full text / Content available
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum
Authors: Najm, Juliane; Horn, Denise; Wimplinger, Isabella; Golden, Jeffrey A.; Chizhikov, Victor V.; Sudi, Jyotsna; Christian, Susan L.; Ullmann, Reinhard; Kuechler, Alma; Haas, Carola A.; Flubacher, Armin; Charnas, Lawrence R.; Uyanik, Gökhan; Frank, Ulrich; Klopocki, Eva; Dobyns, William B.; Kutsche, Kerstin
Date of Publication (YYYY-MM-DD): 2009-09
Title of Journal: Nature Genetics
Volume: 40
Issue / Number: 9
Start Page: 1065
End Page: 1067
Document Type: Article
ID: 473327.0
Expanded clinical spectrum in hepatocyte nuclear factor 1B-maturity-onset diabetes of the young
Authors: Raile, Klemens; Klopocki, Eva; Holder, Martin; Wessel, Theda; Galler, Angela; Deiss, Dorothee; Müller, Dominik; Riebel, Thomas; Horn, Denise; Maringa, Monika; Weber, Jürgen; Ullmann, Reinhard; Grüters, Annette
Date of Publication (YYYY-MM-DD): 2009-07
Title of Journal: Journal of Clinical Endocrinology & Metabolism
Volume: 94
Issue / Number: 7
Start Page: 2658
End Page: 2664
Document Type: Article
ID: 473436.0
Expanded mutational spectrum in Cohen Syndrome, tissue expression, and transcript variants of COH1
Authors: Seifert, Wenke; Holder-Espinasse, Muriel; Kühnisch, Jirko; Kahrizi, Kimia; Tzschach, Andreas; Garshasbi, Masoud; Najmabadi, Hossein; Kuss, Andreas Walter; Kress, Wolfram; Laureys, Geneviève; Loeys, Bart; Brilstra, Eva; Mancini, Grazia M.S.; Dollfus, Hélène; Dahan, Karin; Apse, Kira; Hennies, Hans Christian; Horn, Denise
Date of Publication (YYYY-MM-DD): 2008-11-12
Title of Journal: Human Mutation
Volume: 30
Issue / Number: 2
Start Page: E404
End Page: E420
Document Type: Article
ID: 411209.1
 
Full text / Content available
The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease
Authors: Robinson, Peter N.; Köhler, Sebastian; Bauer, Sebastian; Seelow, Dominik; Horn, Denise; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2008-10-23
Title of Journal: The American Journal of Human Genetics
Volume: 83
Issue / Number: 5
Start Page: 610
End Page: 615
Document Type: Article
ID: 411618.0
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH
Authors: Klopocki, Eva; Graul-Neumann, Luitgard M.; Grieben, Ulrike; Tönnies, Holger; Ropers, Hans-Hilger; Horn, Denise; Mundlos, Stefan; Ullmann, Reinhard
Date of Publication (YYYY-MM-DD): 2008-08
Title of Journal: European Journal of Pediatrics
Volume: 167
Issue / Number: 8
Start Page: 903
End Page: 908
Document Type: Article
ID: 408458.0
 
Full text / Content available
A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures
Authors: Busche, Andreas; Klopocki, Eva; Ullmann, Reinhard; Mundlos, Stefan; Horn, Denise
Date of Publication (YYYY-MM-DD): 2008-07-12
Title of Journal: European Journal of Medical Genetics
Volume: 51
Issue / Number: 6
Start Page: 615
End Page: 621
Document Type: Article
ID: 407084.0
HNF1B Abnormality (Mature-Onset Diabetes of the Young 5) in Children and Adolescents: High prevalence in autoantibody-negative type 1 diabetes with kidney defects
Authors: Raile, Klemens; Klopocki, Eva; Wessel, Theda; Deiss, Dorothee; Horn, Denise; Müller, Dominik; Ullmann, Reinhard; Grüters, Annette
Date of Publication (YYYY-MM-DD): 2008
Title of Journal: Diabetes Care
Volume: 31
Start Page: e83
End Page: e83
Document Type: Article
ID: 411193.0
Entries: 1-10  
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