Resultats de la cerca - April M. Hacker

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  1. 1
    MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q

    MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q per Jacob Vorstman, G R Jalali, Eric Rappaport, April M. Hacker, Clare L. Scott, Beverly S. Emanuel

    Publicat 2006
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  2. 2
    Interrupção do arco aórtico tipo B em uma paciente com síndrome de olho de gato

    Interrupção do arco aórtico tipo B em uma paciente com síndrome de olho de gato per Síntia Belangero, Fernanda T. Bellucco, Mirlene Cecília Soares Pinho Cernach, April M. Hacker, Beverly S. Emanuel, Maria Isabel Melaragno

    Publicat 2009
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  3. 3
    Interrupção do arco aórtico tipo B em uma paciente com síndrome de olho de gato

    Interrupção do arco aórtico tipo B em uma paciente com síndrome de olho de gato per Síntia Belangero, Fernanda T. Bellucco, Mirlene Cecília Soares Pinho Cernach, April M. Hacker, Beverly S. Emanuel, Maria Isabel Melaragno

    Publicat 2009
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  4. 4
    Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum

    Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum per Sintia I. Nogueira, April M. Hacker, Fernanda T.S. Bellucco, Denise Maria Christofolini, Leslie Domenici Kulikowski, Mirlene Cecília Soares Pinho Cernach, Beverly S. Emanuel, Maria Isabel Melaragno

    Publicat 2008
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  5. 5
    Deletion 22q11.2: Report of a complex meiotic mechanism of origin

    Deletion 22q11.2: Report of a complex meiotic mechanism of origin per Sintia I. Nogueira, April M. Hacker, Fernanda T.S. Bellucco, Leslie Domenici Kulikowski, Denise Maria Christofolini, Mirlene Cecília Soares Pinho Cernach, Maria Isabel Melaragno, Beverly S. Emanuel

    Publicat 2007
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  6. 6
    Low copy repeats mediate distal chromosome 22q11.2 deletions: Sequence analysis predicts breakpoint mechanisms

    Low copy repeats mediate distal chromosome 22q11.2 deletions: Sequence analysis predicts breakpoint mechanisms per Tamim H. Shaikh, Ronald J. O’Connor, Mary Ella Pierpont, James McGrath, April M. Hacker, Manjunath Nimmakayalu, Elizabeth A. Geiger, Beverly S. Emanuel, Sulagna C. Saitta

    Publicat 2007
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  7. 7
    High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays

    High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays per Alexander E. Urban, Jan O. Korbel, Rebecca R. Selzer, Todd Richmond, April M. Hacker, George V. Popescu, Joseph F. Cubells, Roland Green, Beverly S. Emanuel, Mark Gerstein, Sherman M. Weissman, M Snyder

    Publicat 2006
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  8. 8
    Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion

    Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion per Sulagna C. Saitta, Stacy E. Harris, Ann P. Gaeth, Deborah A. Driscoll, Donna M. McDonald‐McGinn, Melissa K. Maisenbacher, Jill Yersak, Prabir K. Chakraborty, April M. Hacker, Elaine H. Zackai, Terry Ashley, Beverly S. Emanuel

    Publicat 2003
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