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Results by year

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

Year Number of Results
1995 2
1999 2
2000 1
2002 2
2003 1
2004 3
2005 1
2006 2
2007 1
2008 1
2009 3
2010 3
2011 4
2012 4
2013 1
2014 4
2015 8
2016 12
2017 4
2018 1
2019 1
2022 1
2024 0

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PubMed (Bookshelf cited) for id: 763607

55 results

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Page 1
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. 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.
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.
Falkenberg KD, Braverman NE, Moser AB, Steinberg SJ, Klouwer FCC, Schlüter A, Ruiz M, Pujol A, Engvall M, Naess K, van Spronsen F, Körver-Keularts I, Rubio-Gozalbo ME, Ferdinandusse S, Wanders RJA, Waterham HR. Falkenberg KD, et al. Am J Hum Genet. 2017 Dec 7;101(6):965-976. doi: 10.1016/j.ajhg.2017.11.007. Am J Hum Genet. 2017. PMID: 29220678 Free PMC article.
Parental influence on human germline de novo mutations in 1,548 trios from Iceland.
Jónsson H, Sulem P, Kehr B, Kristmundsdottir S, Zink F, Hjartarson E, Hardarson MT, Hjorleifsson KE, Eggertsson HP, Gudjonsson SA, Ward LD, Arnadottir GA, Helgason EA, Helgason H, Gylfason A, Jonasdottir A, Jonasdottir A, Rafnar T, Frigge M, Stacey SN, Th Magnusson O, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K. Jónsson H, et al. Nature. 2017 Sep 28;549(7673):519-522. doi: 10.1038/nature24018. Epub 2017 Sep 20. Nature. 2017. PMID: 28959963
Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.
Taylor RL, Handley MT, Waller S, Campbell C, Urquhart J, Meynert AM, Ellingford JM, Donnelly D, Wilcox G, Lloyd IC, Mundy H, FitzPatrick DR, Deshpande C, Clayton-Smith J, Black GC. Taylor RL, et al. Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):594-603. doi: 10.1167/iovs.16-21026. Invest Ophthalmol Vis Sci. 2017. PMID: 28129423 Free PMC article.
Diagnosis of a mild peroxisomal phenotype with next-generation sequencing.
Ventura MJ, Wheaton D, Xu M, Birch D, Bowne SJ, Sullivan LS, Daiger SP, Whitney AE, Jones RO, Moser AB, Chen R, Wangler MF. Ventura MJ, et al. Mol Genet Metab Rep. 2016 Nov 11;9:75-78. doi: 10.1016/j.ymgmr.2016.10.006. eCollection 2016 Dec. Mol Genet Metab Rep. 2016. PMID: 27872819 Free PMC article.
55 results