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Entries: 1-8  
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Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
Authors: Endele, Sabine; Rosenberger, Georg; Geider, Kirsten; Popp, Bernt; Tamer, Ceyhun; Stefanova, Irina; Milh, Mathieu; Kortüm, Fanny; Fritsch, Angela; Pientka, Friederike K; Hellenbroich, Yorck; Kalscheuer, Vera M; Kohlhase, Jürgen; Moog, Ute; Rappold, Gudrun; Rauch, Anita; Ropers, Hans-Hilger; von Spiczak, Sarah; Tönnies, Holger; Villeneuve, Nathalie; Villard, Laurent; Zabel, Bernhard; Zenker, Martin; Laube, Bodo; Reis, André; Wieczorek, Dagmar; Van Maldergem, Lionel; Kutsche, Kerstin
Date of Publication (YYYY-MM-DD): 2010-10-03
Title of Journal: Nature Genetics.
Volume: 42
Issue / Number: 11
Start Page: 1021
End Page: 1026
Document Type: Article
ID: 532578.0
 
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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
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
 
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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
Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion
Authors: Tzschach, Andreas; Krause-Plonka, Ines; Menzel, Corinna; Knoblauch, Andreas; Toennies, Holger; Hoeltzenbein, Maria; Radke, Michael; Ropers, Hans-Hilger; Kalscheuer, Vera M.
Date of Publication (YYYY-MM-DD): 2006-04-17
Title of Journal: American Journal of Medical Genetics Part A
Volume: 140
Issue / Number: 10
Start Page: 1108
End Page: 1110
Document Type: Article
ID: 309212.0
 
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A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2
Authors: Klopocki, Eva; Fiebig, Britta; Robinson, Peter N.; Tönnies, Holger; Erdogan, Fikret; Ropers, Hans-Hilger; Mundlos, Stefan; Ullmann, Reinhard
Date of Publication (YYYY-MM-DD): 2006-04
Title of Journal: American Journal of Medical Genetics Part A
Volume: 140A
Issue / Number: 8
Start Page: 873
End Page: 877
Document Type: Article
ID: 313088.0
 
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Molecular cytogenetic analysis of a de novo interstitial deletion 5q23.3q31.2 and its phenotypic consequences
Authors: Tzschach, Andreas; Krause-Plonka, Ines; Menzel, Corinna; Kalscheuer, Vera M.; Toennies, Holger; Scherthan, Harry; Knoblauch, Andreas; Radke, Michael; Ropes, Hans-Hilger; Hoeltzenbein, Maria
Date of Publication (YYYY-MM-DD): 2006-02-06
Title of Journal: American Journal of Medical Genetics
Volume: 140
Issue / Number: 5
Start Page: 496
End Page: 502
Document Type: Article
ID: 308877.0
 
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Entries: 1-8  
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