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Molecular and clinical delineation of the 17q22 microdeletion phenotype

  • Authors: Tobias Laurell, Johanna Lundin, Britt-Marie Anderlid, Jerome L. Gorski, Giedre Grigelioniene, Samantha J. L. Knight, Ana C. V. Krepischi, Agneta Nordenskjöld, Susan M. Price, Carla Rosenberg, Peter D. Turnpenny, Angela M. Vianna-Morgante & Ann Nordgren
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Targeted array comparative genomic hybridization - A new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes

  • Authors: K. Kiiski, L. Laari, V.-L. Lehtokari, M. Lunkka-Hytönen, C. Angelini, R. Petty, P. Hackman, C. Wallgren-Pettersson, & K. Pelin
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Oculocerebral Hypopigmentation Syndrome maps to chromosome 3q27.1q29

  • Authors: E. Chabchoub, O. Cogulu, B. Durmaz, J.R. Vermeesch, F. Ozkinay & J.-P. Fryns
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LIS1 duplication: expanding the phenotype

  • Authors: Jason P. Lockrow, Kenton R. Holden, Alka Dwivedi, Maria G. Matheus & Michael J. Lyons
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