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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 1
2005 1
2006 3
2007 1
2008 4
2009 1
2010 5
2011 2
2012 2
2013 5
2014 2
2015 7
2016 5
2017 5
2018 4
2019 2
2020 4
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46 results
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Page 1
Precision newborn screening for lysosomal disorders.
Minter Baerg MM, Stoway SD, Hart J, Mott L, Peck DS, Nett SL, Eckerman JS, Lacey JM, Turgeon CT, Gavrilov D, Oglesbee D, Raymond K, Tortorelli S, Matern D, Mørkrid L, Rinaldo P. Minter Baerg MM, et al. Among authors: Tortorelli S. Genet Med. 2018 Aug;20(8):847-854. doi: 10.1038/gim.2017.194. Epub 2017 Nov 9. Genet Med. 2018. PMID: 29120458
Newborn screening for lysosomal storage disorders.
Matern D, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S. Matern D, et al. Among authors: Tortorelli S. Semin Perinatol. 2015 Apr;39(3):206-16. doi: 10.1053/j.semperi.2015.03.005. Epub 2015 Apr 16. Semin Perinatol. 2015. PMID: 25891428 Review.
Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas.
Li H, Byers HM, Diaz-Kuan A, Vos MB, Hall PL, Tortorelli S, Singh R, Wallenstein MB, Allain M, Dimmock DP, Farrell RM, McCandless S, Gambello MJ. Li H, et al. Among authors: Tortorelli S. Mol Genet Metab. 2018 Apr;123(4):428-432. doi: 10.1016/j.ymgme.2018.02.016. Epub 2018 Feb 27. Mol Genet Metab. 2018. PMID: 29510902
Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria.
Majumdar R, Yori A, Rush PW, Raymond K, Gavrilov D, Tortorelli S, Matern D, Rinaldo P, Feldman GL, Oglesbee D. Majumdar R, et al. Among authors: Tortorelli S. Mol Genet Genomic Med. 2017 Nov;5(6):795-799. doi: 10.1002/mgg3.333. Epub 2017 Sep 11. Mol Genet Genomic Med. 2017. PMID: 29178637 Free PMC article.
Newborn Screening for X-Linked Adrenoleukodystrophy.
Moser AB, Jones RO, Hubbard WC, Tortorelli S, Orsini JJ, Caggana M, Vogel BH, Raymond GV. Moser AB, et al. Among authors: Tortorelli S. Int J Neonatal Screen. 2016 Dec;2(4):15. doi: 10.3390/ijns2040015. Epub 2016 Dec 6. Int J Neonatal Screen. 2016. PMID: 31467997 Free PMC article.
A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening.
Vidal-Folch N, Milosevic D, Majumdar R, Gavrilov D, Matern D, Raymond K, Rinaldo P, Tortorelli S, Abraham RS, Oglesbee D. Vidal-Folch N, et al. Among authors: Tortorelli S. J Mol Diagn. 2017 Sep;19(5):755-765. doi: 10.1016/j.jmoldx.2017.05.011. J Mol Diagn. 2017. PMID: 28826609 Free article.
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