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Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome |
Authors: Borg, Isabella; Freude, Kristine; Kuebart, Sabine; Hoffmann, Kirsten; Menzel, Corinna; Laccone, Franco; Firth, Helen; Ferguson-Smith, Malcolm A.; Tommerup, Niels; Ropers, Hans-Hilger; Sargan, David; Kalscheuer, Vera M. | Date of Publication (YYYY-MM-DD): 2005-05-04 | Title of Journal: European Journal of Human Genetics | Volume: 13 | Issue / Number: 8 | Start Page: 921 | End Page: 927 | Document Type: Article | ID: 268559.0 |
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Trinucleotide repeat expansions in the junctophilin-3 gene are not found in caucasian patients with a huntington's disease-like phenotype |
Authors: Bauer, Ingrid; Gencik, Martin; Laccone, Franco; Peters, Hartmut; Weber, Bernhard H. F.; Holinski Feder, Elke; Weirich, Helga; Morris-Rosendahl, Deborah J.; Rolfs, Arndt; Gencikova, Alexandra; Bauer, Peter; Wenning, Gregor K.; Epplen, Jörg T.; Holmes, Susan E.; Margolis, Russell L.; Ross, Christopher A.; Riess, Olaf | Date of Publication (YYYY-MM-DD): 2002-04-23 | Title of Journal: Annals of Neurology | Volume: 51 | Issue / Number: 5 | Start Page: 662 | End Page: 662 | Document Type: Article | ID: 24441.0 |
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