Search Results - Jose A. Pitarque

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  1. 1
    Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus

    Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus by Marta Czugala, Justyna A. Karolak, Dorota Nowak, Piotr Polakowski, Jose A. Pitarque, Andrea Molinari, Małgorzata Rydzanicz, Bassem A. Bejjani, Jianbo Yue, Jacek P. Szaflik, Marzena Gajęcka

    Published 2011
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  2. 2
    Localization of a Gene for Keratoconus to a 5.6-Mb Interval on 13q32

    Localization of a Gene for Keratoconus to a 5.6-Mb Interval on 13q32 by Marzena Gajęcka, Uppala Radhakrishna, Daniel Winters, Swapan K. Nath, Małgorzata Rydzanicz, Uppala Ratnamala, Kimberly Ewing, Andrea Molinari, Jose A. Pitarque, Kwanghyuk Lee, Suzanne M. Leal, Bassem A. Bejjani

    Published 2009
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    Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes

    Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes by Jill A. Rosenfeld, Joanne M. Drautz, Carol L. Clericuzio, Tom Cushing, Salmo Raskin, Judith A. Martin, Raymond C. Tervo, Jose A. Pitarque, Dorota Nowak, Justyna A. Karolak, Allen N. Lamb, Roger A. Schultz, Blake C. Ballif, Bassem A. Bejjani, Marzena Gajęcka, Lisa G. Shaffer

    Published 2011
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