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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 |
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| 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 |
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| 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 |
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| 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 |
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