Volume 1, Number 3, Year 2012
Editorial Article
Edgard Andrade and Charles Williams
The importance of developing novel diagnostic tools for congenital metabolic disorders
Original Articles
Barbara Lindau-Shepard, David K. Janik, and Kenneth A. Pass
A microsphere-based assay for mutation analysis of the biotinidase gene using dried blood spots
Lisa Horth, Michael W. Stacey, Virginia K. Proud, Kara Segna, Chelsea Rutherford, Donald Nuss, and Robert E. Kelly
Advancing our understanding of the inheritance and transmission of pectus excavatum
Inesse Ben Abdallah Bouhjar, Abir Gmidène, Soumaya Mougou-Zrelli, Hanene Hannachi, Najla Soyah, Naoufel Gadour, Imed Harrabi, Hatem Elghezal, and Ali Saad
Cytogenetic analysis in a large series of children with non-syndromic mental retardation
Elvis Cueva Mateo, Fabio José Nascimento Motta, Rosane Gomes de Paula Queiroz, Carlos Alberto Scrideli, and Luiz Gonzaga Tone
Protein expression of matrix metalloproteinase (MMP-1, -2, -3, -9 and -14) in Ewing family tumors and medulloblastomas of pediatric patients
Case Reports
Samira Ismail, Nivine A. Helmy, Wael M. Mahmoud, and Mona O. El-Ruby
Phenotypic characterization of rare interstitial deletion of chromosome 4
Rahul Sinha, Shamsher Dalal, Uma Raju, Biju M. John, and Vandana Negi
A case of 9p deletion syndrome with Duane retraction syndrome
Megan Bowers and Gabrielle Gold-von Simson
Moebius syndrome with baroreflex failure in an adolescent female
Mahmut Balkan, Mehmet Fidanboy, Cihan Özmen, M. Nuri Özbek, Selçuk Otçu, Emin Kapı, and Turgay Budak
Cytogenetic and clinical features of a 13 year old male with trisomy 8