DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 03 · Volume 01 · September 2012 DOI: 10.1055/s-005-29727

Editorial

  • 149
    Andrade, Edgard; Williams, Charles:

    The importance of developing novel diagnostic tools for congenital metabolic disorders

  • 153
    Lindau-Shepard, Barbara; Janik, David K.; Pass, Kenneth A.:

    A microsphere-based assay for mutation analysis of the biotinidase gene using dried blood spots

  • 161
    Horth, Lisa; Stacey, Michael W.; Proud, Virginia K.; Segna, Kara; Rutherford, Chelsea; Nuss, Donald; Kelly, Robert E.:

    Advancing our understanding of the inheritance and transmission of pectus excavatum

  • 175
    Bouhjar, Inesse Ben Abdallah; Gmidène, Abir; Mougou-Zrelli, Soumaya; Hannachi, Hanene; Soyah, Najla; Gadour, Naoufel; Harrabi, Imed; Elghezal, Hatem; Saad, Ali:

    Cytogenetic analysis in a large series of children with non-syndromic mental retardation

  • 181
    Mateo, Elvis Cueva; Motta, Fabio José Nascimento; Queiroz, Rosane Gomes de Paula; Scrideli, Carlos Alberto; Tone, Luiz Gonzaga:

    Protein expression of matrix metalloproteinase (MMP-1, -2, -3, -9 and -14) in Ewing family tumors and medulloblastomas of pediatric patients

  • 189
    Ismail, Samira; Helmy, Nivine A.; Mahmoud, Wael M.; El-Ruby, Mona O.:

    Phenotypic characterization of rare interstitial deletion of chromosome 4

  • 195
    Sinha, Rahul; Dalal, Shamsher; Raju, Uma; John, Biju M.; Negi, Vandana:

    A case of 9p deletion syndrome with Duane retraction syndrome

  • 199
    Bowers, Megan; Simson, Gabrielle Gold-von:

    Moebius syndrome with baroreflex failure in an adolescent female

  • 205
    Balkan, Mahmut; Fidanboy, Mehmet; Özmen, Cihan; Özbek, M. Nuri; Otçu, Selçuk; Kapı, Emin; Budak, Turgay:

    Cytogenetic and clinical features of a 13 year old male with trisomy 8