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Entries: 1-10  
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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
Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia
Authors: Kurth, Ingo; Klopocki, Eva; Stricker, Sigmar; van Oosterwijk, Jolieke; Vanek, Sebastian; Altmann, Jens; Santos, Heliosa G.; van Harssel, Jeske J. T.; de Ravel, Thomy; Wilkie, Andrew O. M.; Gal, Andreas; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2009-08
Title of Journal: Nature Genetics
Volume: 41
Issue / Number: 8
Start Page: 862
End Page: 863
Document Type: Article
ID: 456436.0
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
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
Amplification and translocation of 3q26 with overexpression of EVI1 in Fanconi anemia-derived childhood acute myeloid leukemia with biallelic FANCD1/BRCA2 disruption.
Authors: Meyer, Stefan; Fergusson, William D.; Whetton, Anthony D.; Moreira-Leite, Flavia; Pepper, Stuart D.; Miller, Crispin; Saunders, Emma K.; White, Daniel J.; Will, Andrew M.; Eden, Tim; Ikeda, Hideyuki; Ullmann, Reinhard; Tuerkmen, Seval; Gerlach, Antje; Klopocki, Eva; Tönnies, Holger
Date of Publication (YYYY-MM-DD): 2007-04-01
Title of Journal: Genes, Chromosomes and Cancer
Volume: 46
Issue / Number: 4
Start Page: 359
End Page: 372
Document Type: Article
ID: 334295.0
 
Full text / Content available
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius
Authors: Klopocki, Eva; Schulze, Harald; Strauß, Gabriele; Ott, Claus-Eric; Hall, Judith; Trotier, Fabienne; Fleischhauer, Silke; Greenhalgh, Lynn; Newbury-Ecob, Ruth A.; Neumann, Luitgard M.; Habenicht, Rolf; König, Rainer; Seemanova, Eva; Megarbane, André; Ropers, Hans-Hilger; Ullmann, Reinhard; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2007-02-01
Title of Journal: American Journal of Human Genetics : AJHG / American Society of Human Genetics
Volume: 80
Issue / Number: 2
Start Page: 232
End Page: 240
Document Type: Article
ID: 334122.0
 
Full text / Content available
Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene
Authors: Klopocki, Eva; Neumann, Luitgard M.; Tönnies, Holger; Ropers, Hans-Hilger; Mundlos, Stefan; Ullmann, Reinhard
Date of Publication (YYYY-MM-DD): 2006-12-01
Title of Journal: European Journal of Human Genetics : the Official Journal of the European Society of Human Genetics.
Volume: 14
Issue / Number: 121
Start Page: 1274
End Page: 1279
Document Type: Article
ID: 307698.0
 
Full text / Content available
Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene
Authors: Klopocki, Eva; Neumann, Luitgard M.; Tönnies, Holger; Ropers, Hans-Hilger; Mundlos, Stefan; Ullmann, Reinhard
Date of Publication (YYYY-MM-DD): 2006-12-01
Title of Journal: European Journal of Human Genetics : the Official Journal of the European Society of Human Genetics.
Volume: 14
Issue / Number: 121
Start Page: 1274
End Page: 1279
Document Type: Article
ID: 307703.0
 
Full text / Content available
Entries: 1-10  
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