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Anzahl der Publikationen: 2
Zeitschriftenartikel
Vallabh Minikel, Eric; Vallabh, Sonia M.; Lek, Monkol; Estrada, Karol; Samocha, Kaitlin E.; Sathirapongsasuti, J. Fah; McLean, Cory Y.; Tung, Joyce Y.; Yu, Linda P. C.; Gambetti, Pierluigi; Blevins, Janis; Zhang, Shulin; Cohen, Yvonne; Chen, Wei; Yamada, Masahito; Hamaguchi, Tsuyoshi; Sanjo, Nobuo; Mizusawa, Hidehiro; Nakamura, Yosikazu; Kitamoto, Tetsuyuki; Collins, Steven J.; Boyd, Alison; Will, Robert G.; Knight, Richard; Ponto, Claudia; Zerr, Inga; Kraus, Theo F. J.; Eigenbrod, Sabina; Giese, Armin; Calero, Miguel; de Pedro-Cuesta, Jesus; HaiK, Stephane; Laplanche, Jean-Louis; Bouaziz-Amar, Elodie; Brandel, Jean-Philippe; Capellari, Sabina; Parchi, Piero; Poleggi, Anna; Ladogana, Anna; O'Donnell-Luria, Anne H.; Karczewski, Konrad J.; Marshall, Jamie L.; Boehnke, Michael; Laakso, Markku; Mohlke, Karen L.; Kähler, Anna; Chambert, Kimberly; McCarroll, Steven; Sullivan, Patrick F.; Hultman, Christina M.; Purcell, Shaun M.; Sklar, Pamela; Lee, Sven J. van der; Rozemuller, Annemieke; Jansen, Casper; Hofman, Albert; Kraaij, Robert; Rooij, Jeroen G. J. van; Ikram, M. Arfan; Uitterlinden, Andre G.; Duijn, Cornelia M. van; Daly, Mark J. und MacArthur, Daniel G.
(2016):
Quantifying prion disease penetrance using large population control cohorts.
In: Science Translational Medicine, Bd. 8, Nr. 322, 322ra9
Obayashi, Masato; Stevanin, Giovanni; Synofzik, Matthis; Monin, Marie-Lorraine; Duyckaerts, Charles; Sato, Nozomu; Streichenberger, Nathalie; Vighetto, Alain; Desestret, Virginie; Tesson, Christelle; Wichmann, Heinz-Erich; Illig, Thomas; Huttenlocher, Johanna; Kita, Yasushi; Izumi, Yuishin; Mizusawa, Hidehiro; Schoels, Ludger; Klopstock, Thomas; Brice, Alexis; Ishikawa, Kinya und Dürr, Alexandra
(2015):
Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion.
In: Journal if neurology, neurosurgery and psychiatry, Bd. 86, Nr. 9: S. 986-995
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