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Entries: 1-8  
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Search for genes involved in human cognition : molecular characterisation of two novel genes, FBXO25 and KIAA1202, disrupted by a translocation in a mentally retarded patient
Authors: Hagens, Olivier
Name of University: Freie Universität
Place of University: Berlin
Date of Approval (YYYY-MM-DD): 2006-12-19
Document Type: PhD-Thesis
ID: 562761.0
 
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Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophy
Authors: Dadgar, Sharareh; Hagens, Olivier; Dadgar, Seyed Razi; Haghighi, Ehsan Nobakht; Schimpf, Simone; Wissinger, Bernd; Garshasbi, Masoud
Date of Publication (YYYY-MM-DD): 2006-05-12
Title of Journal: Experimental Eye Research
Volume: 83
Issue / Number: 3
Start Page: 702
End Page: 706
Document Type: Article
ID: 307521.0
 
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A new standard nomenclature for proteins related to Apx and Shroom
Authors: Hagens, Olivier; Ballabio, Andrea; Kalscheuer, Vera M.; Kraehenbuhl, Jean-Pierre; Schiaffino, M. Vittoria; Smith, Peter; Staub, Oliver; Hildebrand, Jeff; Wallingford, John B .
Date of Publication (YYYY-MM-DD): 2006-04-14
Title of Journal: BMC Cell Biology
Volume: 7
Start Page: 18
End Page: 19
Document Type: Article
ID: 307635.0
 
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Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect
Authors: Cossée, Mireille; Demeer, Bénédicte; Blanchet, Patricia; Echenne, Bernard; Singh, Deepika; Hagens, Olivier; Antin, Manuela; Finck, Sonja; Vallee, Louis; Dollfus, Hélène; Hegde, Sridevi; Springell, Kelly; Thelma, B. K .; Woods, Geoffrey; Kalscheuer, Vera M.; Mandel, Jean-Louis
Date of Publication (YYYY-MM-DD): 2006-02-22
Title of Journal: European Journal of Human Genetics : the Official Journal of the European Society of Human Genetics
Volume: 14
Issue / Number: 4
Start Page: 418
End Page: 425
Document Type: Article
ID: 307435.0
 
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Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation
Authors: Hagens, Olivier; Dubos, Aline; Abidi, Fatima; Barbi, Gotthold; Van Zutven, Laura; Hoeltzenbein, Maria; Tommerup, Niels; Moraine, Claude; Fryns, Jean-Pierre; Chelly, Jamel; van Bokhoven, Hans; Gécz, Jozef; Dollfus, Hélène; Ropers, Hans-Hilger; Schwartz, Charles E.; de Cassia Stocco dos Santos, Rita; Kalscheuer, Vera M.; Hanauer, André
Date of Publication (YYYY-MM-DD): 2006-01-01
Title of Journal: Human Genetics
Volume: 118
Issue / Number: 5
Start Page: 578
End Page: 590
Document Type: Article
ID: 307641.0
 
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Characterization of FBX25, encoding a novel brain-expressed F-box protein
Authors: Hagens, Olivier; Minina, Eleonora; Schweiger, Susann; Ropers, Hans-Hilger; Kalscheuer, Vera M.
Date of Publication (YYYY-MM-DD): 2006-01-01
Title of Journal: Biochimica et Biophysica Acta (BBA) - General Subjects
Volume: 1760
Issue / Number: 1
Start Page: 110
End Page: 118
Document Type: Article
ID: 307646.0
 
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Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy
Authors: Shoichet, Sarah A.; Duprez, Laurence; Hagens, Olivier; Waetzig, Vicki; Menzel, Corinna; Herdegen, Thomas; Schweiger, Susann; Dan, Bernard; Vamos, Esther; Ropers, Hans-Hilger; Kalscheuer, Vera M.
Date of Publication (YYYY-MM-DD): 2006-01-01
Title of Journal: Human Genetics
Volume: 118
Issue / Number: 5
Start Page: 559
End Page: 567
Document Type: Article
ID: 308502.0
 
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Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
Authors: Kalscheuer, Vera M.; Freude, Kristine; Musante, Luciana; Jensen, Lars R.; Yntema, Helger G.; Gecz, Jozef; Sefiani, Abdelaziz; Hoffmann, Kirsten; Moser, Bettina; Haas, Stefan; Gurok, Ulf; Haesler, Sebastian; Aranda, Beatriz; Nshedjan, Arpik; Tzschach, Andreas; Hartmann, Nils; Roloff, Tim-Christoph; Shoichet, Sarah; Hagens, Olivier; Tao, Jiong; van Bokhoven, Hans; Turner, Gillian; Chelly, Jamel; Moraine, Claude; Fryns, Jean-Pierre; Nuber, Ulrike; Hoeltzenbein, Maria; Scharff, Constance; Scherthan, Harry; Lenzner, Steffen; Hamel, Ben C. J.; Schweiger, Susann; Ropers, Hans-Hilger
Date of Publication (YYYY-MM-DD): 2003-12
Title of Journal: Nature Genetics
Volume: 35
Issue / Number: 4
Start Page: 313
End Page: 315
Document Type: Article
ID: 127750.0
 
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Entries: 1-8  
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