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

Year Number of Results
2002 3
2003 5
2004 8
2005 8
2006 7
2007 2
2008 5
2009 3
2010 7
2011 5
2012 6
2013 4
2014 4
2015 7
2016 4
2017 5
2018 4
2019 3
2020 7
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Search Results

85 results
Results by year
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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: Rinaldo P. 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: Rinaldo P. 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.
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.
Huemer M, Kožich V, Rinaldo P, Baumgartner MR, Merinero B, Pasquini E, Ribes A, Blom HJ. Huemer M, et al. Among authors: Rinaldo P. J Inherit Metab Dis. 2015 Nov;38(6):1007-19. doi: 10.1007/s10545-015-9830-z. Epub 2015 Mar 12. J Inherit Metab Dis. 2015. PMID: 25762406 Free PMC article. Review.
Curative ex vivo liver-directed gene therapy in a pig model of hereditary tyrosinemia type 1.
Hickey RD, Mao SA, Glorioso J, Elgilani F, Amiot B, Chen H, Rinaldo P, Marler R, Jiang H, DeGrado TR, Suksanpaisan L, O'Connor MK, Freeman BL, Ibrahim SH, Peng KW, Harding CO, Ho CS, Grompe M, Ikeda Y, Lillegard JB, Russell SJ, Nyberg SL. Hickey RD, et al. Among authors: Rinaldo P. Sci Transl Med. 2016 Jul 27;8(349):349ra99. doi: 10.1126/scitranslmed.aaf3838. Sci Transl Med. 2016. PMID: 27464750 Free PMC article.
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: Rinaldo P. 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.
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: Rinaldo P. 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.
Chronic Phenotype Characterization of a Large-Animal Model of Hereditary Tyrosinemia Type 1.
Elgilani F, Mao SA, Glorioso JM, Yin M, Iankov ID, Singh A, Amiot B, Rinaldo P, Marler RJ, Ehman RL, Grompe M, Lillegard JB, Hickey RD, Nyberg SL. Elgilani F, et al. Among authors: Rinaldo P. Am J Pathol. 2017 Jan;187(1):33-41. doi: 10.1016/j.ajpath.2016.09.013. Epub 2016 Nov 14. Am J Pathol. 2017. PMID: 27855279 Free PMC article.
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