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Entries: 1-4  
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Sarcoidosis is associated with a truncating splice site mutation in BTNL2
Authors: Valentonyte, Ruta; Hampe, Jochen; Huse, Klaus; Rosenstiel, Philip; Albrecht, Mario; Stenzel, Annette; Nagy, Marion; Gaede, Karoline I.; Franke, Andre; Haesler, Robert; Koch, Andreas; Lengauer, Thomas; Seegert, Dirk; Reiling, Norbert; Ehlers, Stefan; Schwinger, Eberhard; Platzer, Mathias; Krawczak, Michael; Müller-Quernheim, Joachim; Schürmann, Manfred; Schreiber, Stefan
Date of Publication (YYYY-MM-DD): 2005
Title of Journal: Nature Genetics
Volume: 37
Start Page: 357
End Page: 364
Document Type: Article
ID: 279042.0
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation
Authors: Tao, Jiong; Van Esch, Hilde; Hagedorn-Greiwe, M.; Hoffmann, Kirsten; Moser, Bettina; Raynaud, Martine; Sperner, Jürgen; Fryns, Jean-Pierre; Schwinger, Eberhard; Gécz, Jozef; Ropers, Hans-Hilger; Kalscheuer, Vera M.
Date of Publication (YYYY-MM-DD): 2004-10-21
Title of Journal: American Journal of Human Genetics
Volume: 75
Issue / Number: 6
Start Page: 1149
End Page: 1154
Document Type: Article
ID: 225647.0
An excess of chromosome 1 breakpoints in male infertility
Authors: Bache, Iben; Van Assche, Elvire; Cingoz, Sultan; Bugge, Merete; Tümer, Zeynep; Hjorth, Mads; Lundsteen, Claes; Lespinasse, James; Winther, Kirsten; Niebuhr, Anita; Kalscheuer, Vera; Liebaers, Inge; Bonduelle, Maryse; Tournaye, Herman; Ayuso, Carmen; Barbi, Gotthold; Blennow, Elisabeth; Bourrouillou, Georges; Brondum-Nielsen, Karen; Bruun-Petersen, Gert; Croquette, Marie-Francoise; Dahoun, Sophie; Dallapiccola, Bruno; Davison, Val; Delobel, Bruno; Duba, Hans-Christoph; Duprez, Laurence; Ferguson-Smith, Malcolm; FitzPatrick, David R; Grace, Elizabeth; Hansmann, Ingo; Hultén, Maj; Jensen, Peter K A; Jonveaux, Philippe; Kristoffersson, Ulf; Lopez-Pajares, Isidora; McGowan-Jordan, Jean; Murken, Jan; Orera, Maria; Parkin, Tony; Passarge, Eberhard; Ramos, Carmen; Rasmussen, Kirsten; Schempp, Werner; Schubert, Regine; Schwinger, Eberhard; Shabtai, Fiorella; Smith, Kim; Stallings, Raymond; Stefanova, Margarita; Tranebjerg, Lisbeth; Turleau, Catherine; van der Hagen, Carl Birger; Vekemans, Michel; Vokac, Nadja Kokalj; Wagner, Klaus; Wahlstroem, Jan; Zelante, Leopoldo; Tommerup, Niels
Date of Publication (YYYY-MM-DD): 2004-09-15
Title of Journal: European Journal of Human Genetics
Volume: 12
Issue / Number: 12
Start Page: 993
End Page: 1000
Document Type: Article
ID: 224261.0
Disruption of the Serine/Threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation
Authors: Kalscheuer, Vera M.; Tao, Jiong; Donnelly, Andrew; Hollway, Georgina; Schwinger, Eberhard; Kubart, Sabine; Menzel, Corinna; Hoeltzenbein, Maria; Tommerup, Niels; Eyre, Helen; Harbord, Michael; Haan, Eric; Sutherland, Grant R.; Ropers, Hans-Hilger; Gécz, Josef
Date of Publication (YYYY-MM-DD): 2003-06
Title of Journal: American Journal of Human Genetics
Volume: 72
Issue / Number: 6
Start Page: 1401
End Page: 1411
Document Type: Article
ID: 127726.0
Entries: 1-4  
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