Williams, Charles:


The importance of developing novel diagnostic tools for congenital metabolic disorders

Janik, David K.;

Pass, Kenneth A.:


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

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

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

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

Helmy, Nivine A.;

Mahmoud, Wael M.;

El-Ruby, Mona O.:


Phenotypic characterization of rare interstitial deletion of chromosome 4

Dalal, Shamsher;

Raju, Uma;

John, Biju M.;

Negi, Vandana:


A case of 9p deletion syndrome with Duane retraction syndrome

Simson, Gabrielle Gold-von:


Moebius syndrome with baroreflex failure in an adolescent female

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