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المؤلفون: Sangwoo T, Han, Andrew C, Kim, Karolyn, Garcia, Lisa A, Schimmenti, Ellen, Macnamara, Undiagnosed Diseases, Network, William A, Gahl, May C, Malicdan, Cynthia J, Tifft
المصدر: Mol Genet Metab
مصطلحات موضوعية: Hypoxanthine Phosphoribosyltransferase, Lesch-Nyhan Syndrome, Autism Spectrum Disorder, Endocrinology, Diabetes and Metabolism, Proteins, Biochemistry, Article, Phenotype, Endocrinology, Protein Biosynthesis, Genetics, Humans, Intramolecular Transferases, Molecular Biology
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2
المؤلفون: Marjan Huizing, Marya S. Sabir, Mary E. Hackbarth, Lynne A. Wolfe, Melissa P. Wasserstein, David R. Adams, May C. Malicdan, William A. Gahl, Steven U. Walkley, F.S.A.S.D. Consortium
المصدر: Molecular Genetics and Metabolism. 135:S59-S60
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
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3دورية أكاديمية
المؤلفون: Agnès Delaunay, Kenneth D Bromberg, Yukiko Hayashi, Massimiliano Mirabella, Denise Burch, Brian Kirkwood, Carlo Serra, May C Malicdan, Andrew P Mizisin, Roberta Morosetti, Aldobrando Broccolini, Ling T Guo, Stephen N Jones, Sergio A Lira, Pier Lorenzo Puri, G Diane Shelton, Ze'ev Ronai
المصدر: PLoS ONE, Vol 3, Iss 2, p e1609 (2008)
وصف الملف: electronic resource