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Genomics, intellectual disability, and autism.
Mefford HC, Batshaw ML, Hoffman EP. Mefford HC, et al. Among authors: batshaw ml. N Engl J Med. 2012 Feb 23;366(8):733-43. doi: 10.1056/NEJMra1114194. N Engl J Med. 2012. PMID: 22356326 Free PMC article. Review. No abstract available.
Cognitive outcome in urea cycle disorders.
Gropman AL, Batshaw ML. Gropman AL, et al. Among authors: batshaw ml. Mol Genet Metab. 2004 Apr;81 Suppl 1:S58-62. doi: 10.1016/j.ymgme.2003.11.016. Mol Genet Metab. 2004. PMID: 15050975 Review.
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium.
Seminara J, Tuchman M, Krivitzky L, Krischer J, Lee HS, Lemons C, Baumgartner M, Cederbaum S, Diaz GA, Feigenbaum A, Gallagher RC, Harding CO, Kerr DS, Lanpher B, Lee B, Lichter-Konecki U, McCandless SE, Merritt JL, Oster-Granite ML, Seashore MR, Stricker T, Summar M, Waisbren S, Yudkoff M, Batshaw ML. Seminara J, et al. Among authors: batshaw ml. Mol Genet Metab. 2010;100 Suppl 1(Suppl 1):S97-105. doi: 10.1016/j.ymgme.2010.01.014. Epub 2010 Feb 10. Mol Genet Metab. 2010. PMID: 20188616 Free PMC article. Review.
Cross-sectional multicenter study of patients with urea cycle disorders in the United States.
Tuchman M, Lee B, Lichter-Konecki U, Summar ML, Yudkoff M, Cederbaum SD, Kerr DS, Diaz GA, Seashore MR, Lee HS, McCarter RJ, Krischer JP, Batshaw ML; Additional members of Urea Cycle Disorders Consortium of the Rare Diseases Clinical Research Network. Tuchman M, et al. Among authors: batshaw ml. Mol Genet Metab. 2008 Aug;94(4):397-402. doi: 10.1016/j.ymgme.2008.05.004. Epub 2008 Jun 17. Mol Genet Metab. 2008. PMID: 18562231 Free PMC article.
134 results