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The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

Authors: Cynthia J. Curry et al.

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Correction of unexpected distributions of P values from analysis of whole genome arrays by rectifying violation of statistical assumptions

Authors: Sheila J. Barton, Sarah R. Crozier, Karen A. Lillycrop, Keith M. Godfrey & Hazel M. Inskip

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Genome wide analysis of chromosomal alterations in oral squamous cell carcinomas revealed over expression of MGAM and ADAM9

Authors: Vui King Vincent-Chong et al

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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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High frequencies of de novo CNVs in Bipolar Disorder and Schizophrenia

Authors: Dheeraj Malhotra et al

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Severe Hunter Syndrome (Mucopolysaccharidosis II) phenotype secondary to large deletion in the X chromosome encompassing IDS, FMR1, and AFF2 (FMR2)

Authors: Day M. Burruss, Tim C. Wood, Lesby Espinoza, Alka Dwivedi & Kenton R. Holden

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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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