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Showing 196 - 208 of 270

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  • Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders

    Kagistia H. Utami, Axel M. Hillmer, Irene Aksoy, Elaine G. Y. Chew, Audrey S. M. Teo, Zhenshui Zhang, Charlie W. H. Lee, Pauline J. Chen, Chan Chee Seng, Pramila N. Ariyaratne, Sigrid L. Rouam, Lim Seong Soo, Saira Yousoof, Ivan Prokudin, Gregory Peters, Felicity Collins, Meredith Wilson, Alyson Kakakios, Georges Haddad, Arnaud Menuet, Olivier Perche, Stacey Kiat Hong Tay, Ken W. K. Sung, Xiaoan Ruan, Yijun Ruan, Edison T. Liu, Sylvain Briault, Robyn V. Jamieson, Sonia Davila, Valere Cacheux

    published 06 Mar 2014

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  • Genome-Wide Linkage, Exome Sequencing and Functional Analyses Identify ABCB6 as the Pathogenic Gene of Dyschromatosis Universalis Hereditaria

    Hong Liu, Yi Li, Ken Kwok Hon Hung, Na Wang, Chuan Wang, Xuechao Chen, Donglai Sheng, Xi’an Fu, Kelvin See, Jia Nee Foo, Huiqi Low, Herty Liany, Ishak Darryl Irwan, Jian Liu, Baoqi Yang, Mingfei Chen, Yongxiang Yu, Gongqi Yu, Guiye Niu, Jiabao You, Yan Zhou, Shanshan Ma, Ting Wang, Xiaoxiao Yan, Boon Kee Goh, John E. A. Common, Birgitte E. Lane, Yonghu Sun, Guizhi Zhou, Xianmei Lu, Zhenhua Wang, Hongqing Tian, Yuanhua Cao, Shumin Chen, Qiji Liu, Jianjun Liu, Furen Zhang

    published 03 Feb 2014

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  • Complex Patterns of Chromosome 11 Aberrations in Myeloid Malignancies Target CBL, MLL, DDB1 and LMO2

    Thorsten Klampfl, Jelena D. Milosevic, Ana Puda, Andreas Schönegger, Klaudia Bagienski, Tiina Berg, Ashot S. Harutyunyan, Bettina Gisslinger, Elisa Rumi, Luca Malcovati, Daniela Pietra, Chiara Elena, Matteo Giovanni Della Porta, Lisa Pieri, Paola Guglielmelli, Christoph Bock, Michael Doubek, Dana Dvorakova, Nada Suvajdzic, Dragica Tomin, Natasa Tosic, Zdenek Racil, Michael Steurer, Sonja Pavlovic, Alessandro M. Vannucchi, Mario Cazzola, Heinz Gisslinger, Robert Kralovics

    published 16 Oct 2013

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