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Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.
Hobert JA, Embacher R, Mester JL, Frazier TW 2nd, Eng C. Hobert JA, et al. Eur J Hum Genet. 2014 Feb;22(2):273-6. doi: 10.1038/ejhg.2013.114. Epub 2013 May 22. Eur J Hum Genet. 2014. PMID: 23695273 Free PMC article.
Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.
Hobert JA, Mester JL, Moline J, Eng C. Hobert JA, et al. Genet Med. 2012 Jun;14(6):616-9. doi: 10.1038/gim.2011.63. Epub 2012 Jan 26. Genet Med. 2012. PMID: 22261759 Free PMC article.
PTEN hamartoma tumor syndrome: an overview.
Hobert JA, Eng C. Hobert JA, et al. Genet Med. 2009 Oct;11(10):687-94. doi: 10.1097/GIM.0b013e3181ac9aea. Genet Med. 2009. PMID: 19668082 Review.
Plasma chitotriosidase in lysosomal storage diseases.
Isman F, Hobert JA, Thompson JN, Natowicz MR. Isman F, et al. Among authors: hobert ja. Clin Chim Acta. 2008 Jan;387(1-2):165-7. doi: 10.1016/j.cca.2007.07.019. Epub 2007 Jul 28. Clin Chim Acta. 2008. PMID: 17869233 No abstract available.
A novel role of the Batten disease gene CLN3: association with BMP synthesis.
Hobert JA, Dawson G. Hobert JA, et al. Biochem Biophys Res Commun. 2007 Jun 22;358(1):111-6. doi: 10.1016/j.bbrc.2007.04.064. Epub 2007 Apr 19. Biochem Biophys Res Commun. 2007. PMID: 17482562 Free PMC article.
Neuronal ceroid lipofuscinoses therapeutic strategies: past, present and future.
Hobert JA, Dawson G. Hobert JA, et al. Biochim Biophys Acta. 2006 Oct;1762(10):945-53. doi: 10.1016/j.bbadis.2006.08.004. Epub 2006 Aug 16. Biochim Biophys Acta. 2006. PMID: 17049436 Free article. Review.
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