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Entries: 1-7  
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival
Authors: Hucthagowder, Vishwanathan; Morava, Eva; Kornak, Uwe; Lefeber, Dirk J.; Fischer, Björn; Dimopoulou, Aikaterini; Aldinger, Annika; Choi, Jiwon; Davis, Elaine C.; Abuelo, Dianne N.; Adamowicz, Maciej; Al-Aama, Jumana; Basel-Vanagaite, Lina; Fernandez, Bridget; Greally, Marie T.; Gillessen-Kaesbach, Gabriele; Kayserili, Hulya; Lemyre, Emmanuelle; Tekin, Mustafa; Türkmen, Seval; Tuysuz, Beyhan; Yüksel-Konuk, Berrin; Mundlos, Stefan; Van Maldergem, Lionel; Wevers, Ron A.; Urban, Zsolt
Date of Publication (YYYY-MM-DD): 2009-06
Title of Journal: Human Molecular Genetics
Volume: 18
Issue / Number: 12
Start Page: 2149
End Page: 2165
Document Type: Article
ID: 447495.0
CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait
Authors: Türkmen, Seval; Guo, Gao; Garshasbi, Masoud; Hoffmann, Katrin; Alshalah, Amjad J.; Mischung, Claudia; Kuss, Andreas; Humphrey, Nicholas; Mundlos, Stefan; Robinson, Peter N.
Date of Publication (YYYY-MM-DD): 2009-05-22
Title of Journal: PLoS Genetics
Volume: 5
Start Page: e1000487
End Page: e1000487
Document Type: Article
ID: 473612.0
Genes and quadrupedal locomotion in humans
Authors: Humphrey, Nicholas; Mundlos, Stefan; Türkmen, Seval
Date of Publication (YYYY-MM-DD): 2008-05-15
Title of Journal: Proceedings of the National Academy of Sciences of the United States of America
Volume: 105
Issue / Number: 21
Start Page: E26
End Page: E26
Document Type: Article
ID: 411698.0
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
Full text / Content available
Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1
Authors: Schwabe, Georg C.; Türkmen, Seval; Leschik, Gundula; Palanduz, Sukru; Stöver, Brigitte; Goecke, Timm O.; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2004-02-01
Title of Journal: American Journal of Medical Genetics
Volume: 124A
Issue / Number: 4
Start Page: 356
End Page: 363
Document Type: Article
ID: 228869.0
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
TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies
Authors: Katzke, Stefanie; Booms, Patrick; Tiecke, Frank; Palz, Monika; Pletschacher, Angelika; Türkmen, Seval; Neumann, Luitgard M.; Pregla, Reinhard; Leitner, Christa; Schramm, Cornelia; Lorenz, Peter; Hagemeier, Christian; Fuchs, Josefine; Skovby, Flemming; Rosenberg, Thomas; Robinson, Peter N.
Date of Publication (YYYY-MM-DD): 2002-08-21
Title of Journal: Human Mutation
Volume: 20
Issue / Number: 3
Start Page: 197
End Page: 208
Document Type: Article
ID: 24751.0
Entries: 1-7  
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