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

Year Number of Results
1993 1
2000 1
2002 3
2003 1
2004 2
2005 2
2006 1
2007 2
2008 3
2009 7
2010 4
2011 4
2012 8
2013 9
2014 8
2015 6
2016 15
2017 10
2018 6
2019 4
2020 3
2021 6
2022 9
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Search Results

95 results
Results by year
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Page 1
Krabbe Disease.
Orsini JJ, Escolar ML, Wasserstein MP, Caggana M. Orsini JJ, et al. Among authors: caggana m. 2000 Jun 19 [updated 2018 Oct 11]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2000 Jun 19 [updated 2018 Oct 11]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301416 Free Books & Documents. Review.
Newborn screening for Krabbe disease in New York State: the first eight years' experience.
Orsini JJ, Kay DM, Saavedra-Matiz CA, Wenger DA, Duffner PK, Erbe RW, Biski C, Martin M, Krein LM, Nichols M, Kurtzberg J, Escolar ML, Adams DJ, Arnold GL, Iglesias A, Galvin-Parton P, Kronn DF, Kwon JM, Levy PA, Pellegrino JE, Shur N, Wasserstein MP, Caggana M; New York State Krabbe Disease Consortium. Orsini JJ, et al. Among authors: caggana m. Genet Med. 2016 Mar;18(3):239-48. doi: 10.1038/gim.2015.211. Epub 2016 Jan 21. Genet Med. 2016. PMID: 26795590 Free article.
The future of newborn screening for lysosomal disorders.
Wasserstein MP, Orsini JJ, Goldenberg A, Caggana M, Levy PA, Breilyn M, Gelb MH. Wasserstein MP, et al. Among authors: caggana m. Neurosci Lett. 2021 Aug 24;760:136080. doi: 10.1016/j.neulet.2021.136080. Epub 2021 Jun 22. Neurosci Lett. 2021. PMID: 34166724
Newborn screening for Krabbe's disease.
Orsini JJ, Saavedra-Matiz CA, Gelb MH, Caggana M. Orsini JJ, et al. Among authors: caggana m. J Neurosci Res. 2016 Nov;94(11):1063-75. doi: 10.1002/jnr.23781. J Neurosci Res. 2016. PMID: 27638592 Free PMC article. Review.
Copy number variants in Ebstein anomaly.
Giannakou A, Sicko RJ, Zhang W, Romitti P, Browne ML, Caggana M, Brody LC, Jelliffe-Pawlowski L, Shaw GM, Kay DM, Mills JL. Giannakou A, et al. Among authors: caggana m. PLoS One. 2017 Dec 7;12(12):e0188168. doi: 10.1371/journal.pone.0188168. eCollection 2017. PLoS One. 2017. PMID: 29216221 Free PMC article.
Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency.
Hart K, Rohrwasser A, Wallis H, Golsan H, Shao J, Anderson T, Wang X, Szabo-Fresnais N, Morrissey M, Kay DM, Wojcik M, Galvin-Parton PA, Longo N, Caggana M, Pasquali M. Hart K, et al. Among authors: caggana m. Mol Genet Metab. 2021 Sep-Oct;134(1-2):60-64. doi: 10.1016/j.ymgme.2021.07.012. Epub 2021 Jul 29. Mol Genet Metab. 2021. PMID: 34389248
Copy number variants in hypoplastic right heart syndrome.
Giannakou A, Sicko RJ, Kay DM, Zhang W, Romitti PA, Caggana M, Shaw GM, Jelliffe-Pawlowski LL, Mills JL. Giannakou A, et al. Among authors: caggana m. Am J Med Genet A. 2018 Dec;176(12):2760-2767. doi: 10.1002/ajmg.a.40527. Epub 2018 Oct 5. Am J Med Genet A. 2018. PMID: 30289599
95 results