نتایج جستجو برای: pubmed central

تعداد نتایج: 513677  

Journal: :iranian journal of child neurology 0
razieh boroujerdi 1. counselor in welfare organization of qom, iran mohsen shariati 2. technical corresponding in pouya, genetic counseling clinic, qom, iran hosein naddafnia 3. islamic azad university science and research branch, tehran, iran hojatolah rezaei* 4. counselor in arman genetic counseling clinic, babol, iran

how to cite this article: boroujerdi r, shariati m, naddafnia h, rezaei h. small duplication of hprt 1 gene may be causative for lesh- nyhan disease in iranian patients. iran j child neurol. 2015 winter;9(1):103-106. abstract deficiency of hypoxanthine-guanine phosphoribosyltransferase (hgprt) is a rare inborn error of purine metabolism and is characterized by uric acid overproduction along wit...

2013
Douglas S Gomes Rafael M Rocha Helenice Gobbi Simone S Porto

This peer-reviewed article can be downloaded, printed and distributed freely for any purposes (see copyright notice below). Articles in Diagnostic Pathology are listed in PubMed and archived at PubMed Central. For information about publishing your research in Diagnostic Pathology or any BioMed Central journal, go to http://www.diagnosticpathology.org/authors/instructions/ For information about ...

2013
Sara Ijaz Gilani David A Leon

This peer-reviewed article can be downloaded, printed and distributed freely for any purposes (see copyright notice below). Articles in PHM are listed in PubMed and archived at PubMed Central. For information about publishing your research in PHM or any BioMed Central journal, go to http://www.pophealthmetrics.com/authors/instructions/ For information about other BioMed Central publications go ...

Journal: :Journal of Neurology, Neurosurgery & Psychiatry 2002

2013
Stephen Maginn Andrew Henry Paul Labute Johannes Maier Nels Thorsteinson

Here, we introduce an aligned database of protein kinase structures that can be efficiently explored by sequence, structure, or by ATP pocket ligand (type or similarity). We also discuss an automated protocol for kinase identification , classification and superposition that relies on a curated reference set of structures and sequences covering the wide variety of human protein kinases. Open acc...

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