Journal of Pediatric Genetics

Ausgabe 03 · September 2012

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Editorial
149
Andrade, Edgard; Williams, Charles: The importance of developing novel diagnostic tools for congenital metabolic disorders

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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

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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

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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

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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

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189
Ismail, Samira; Helmy, Nivine A.; Mahmoud, Wael M.; El-Ruby, Mona O.: Phenotypic characterization of rare interstitial deletion of chromosome 4

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195
Sinha, Rahul; Dalal, Shamsher; Raju, Uma; John, Biju M.; Negi, Vandana: A case of 9p deletion syndrome with Duane retraction syndrome

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199
Bowers, Megan; Simson, Gabrielle Gold-von: Moebius syndrome with baroreflex failure in an adolescent female

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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

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