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Nature Communications, ISSN 2041-1723, 12/2017, Volume 8, Issue 1, pp. 1052 - 12
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/2008, Volume 45, Issue 11, pp. 710 - 720
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Nature Communications, ISSN 2041-1723, 10/2017, Volume 8
De novo mutations in specific mTOR pathway genes cause brain overgrowth in the context of intellectual disability (ID). By analyzing 101 mMTOR-related genes in... 
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Pediatric Research, ISSN 0031-3998, 11/2011, Volume 70, pp. 181 - 181
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European Journal of Medical Genetics, ISSN 1769-7212, 2011, Volume 54, Issue 3, pp. 299 - 300
Journal Article
by Roth, P and Silginer, M and Goodman, S. L and Hasenbach, K and Thies, S and Schraml, P and Tabatabai, G and Moch, H and Tritschler, I and Weller, M and Perin, A and Verginelli, F and Dali, R and Hei Man Fung, K and Lo, R and Longatti, P and Guiot, M and Del Maestro, R. F and Rossi, S and Di Porzio, U and Stechishin, O and Weiss, S and Stifani, S and Sanzey, M and Golebiewska, A and Stieber, D and Nazarov, P and Muller, A and Vallar, L and Niclou, S. P and Lawler, S. E and Chiocca, E and Williams, S. P and Wanka, C and Steinbach, J. P and Rieger, J and Lavon, I and Zrihan, D and Refael, M and Siegal, T and Sminia, P and Van Nifterik, K. A and Van den Berg, J and Lafleur, V. M and Stalpers, L. J. A and Slotman, B. J and Di stefano, A and Enciso-Mora, V and Marie, Y and Desestret, V and Labussiere, M and Idbaih, A and Hoang-Xuan, K and Delattre, J and Houlston, R and Sanson, M and Woehrer, A and Slavc, I and Stefanits, H and Waldhoer, T and Heinzl, H and Zielonke, N and Czech, T and Hainfellner, J. A and Haberler, C and Zouaoui, S and Darlix, A and Virion, J and Rigau, V and Mathieu-Daude, H and Bauchet, F and Figarella-Branger, D and Duffau, H and Taillandier, L and Bauchet, L and Naydenov, E and Popov, R and Tanova, R and Minkin, K and De Vleeschouwer, S and Van Gool, S and Cavaletti, G and Wilbers, J and Hoebers, F and Boogerd, W and van Werkhoven, E and Nowee, M and Hart, G and van Dijk, E and Kappelle, A and Dorresteijn, L and Furuse, M and Miyata, T and Yoritsune, E and Kawabata, S and Kuroiwa, T and Miyatake, S and Boele, F. W and Heimans, J. J and Aaronson, N. K and ... and On Behalf of the European Organisation for Research and Treatment of Cancer Brain Tumor Group
Neuro-Oncology, ISSN 1522-8517, 09/2012, Volume 14, Issue suppl 3, pp. iii1 - iii94
Journal Article
Molecular Syndromology, ISSN 1661-8769, 09/2010, Volume 1, Issue 3, pp. 113 - 120
Partial monosomy 21 has been reported, but the phenotypes described are variable with location and size of the deletion. We present 2 patients with a partially... 
Original Article | Microdeletion syndrome | 21q2 | Chromosome 21 | DYRK1A | Polymicrogyria | Mental retardation | Periventricular nodular heterotopia | Original
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