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

Year Number of Results
2001 1
2004 1
2005 3
2006 4
2007 1
2008 1
2009 3
2010 1
2011 4
2012 1
2013 2
2014 1
2015 4
2016 9
2017 11
2018 4
2019 14
2020 18
2021 5
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Search Results

75 results
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Page 1
Down syndrome.
Antonarakis SE, Skotko BG, Rafii MS, Strydom A, Pape SE, Bianchi DW, Sherman SL, Reeves RH. Antonarakis SE, et al. Among authors: skotko bg. Nat Rev Dis Primers. 2020 Feb 6;6(1):9. doi: 10.1038/s41572-019-0143-7. Nat Rev Dis Primers. 2020. PMID: 32029743 Review.
Down syndrome: Cognitive and behavioral functioning across the lifespan.
Grieco J, Pulsifer M, Seligsohn K, Skotko B, Schwartz A. Grieco J, et al. Among authors: skotko b. Am J Med Genet C Semin Med Genet. 2015 Jun;169(2):135-49. doi: 10.1002/ajmg.c.31439. Epub 2015 May 18. Am J Med Genet C Semin Med Genet. 2015. PMID: 25989505 Review.
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
Flex E, Martinelli S, Van Dijck A, Ciolfi A, Cecchetti S, Coluzzi E, Pannone L, Andreoli C, Radio FC, Pizzi S, Carpentieri G, Bruselles A, Catanzaro G, Pedace L, Miele E, Carcarino E, Ge X, Chijiwa C, Lewis MES, Meuwissen M, Kenis S, Van der Aa N, Larson A, Brown K, Wasserstein MP, Skotko BG, Begtrup A, Person R, Karayiorgou M, Roos JL, Van Gassen KL, Koopmans M, Bijlsma EK, Santen GWE, Barge-Schaapveld DQCM, Ruivenkamp CAL, Hoffer MJV, Lalani SR, Streff H, Craigen WJ, Graham BH, van den Elzen APM, Kamphuis DJ, ├Ľunap K, Reinson K, Pajusalu S, Wojcik MH, Viberti C, Di Gaetano C, Bertini E, Petrucci S, De Luca A, Rota R, Ferretti E, Matullo G, Dallapiccola B, Sgura A, Walkiewicz M, Kooy RF, Tartaglia M. Flex E, et al. Among authors: skotko bg. Am J Hum Genet. 2019 Sep 5;105(3):493-508. doi: 10.1016/j.ajhg.2019.07.007. Epub 2019 Aug 22. Am J Hum Genet. 2019. PMID: 31447100 Free PMC article.
HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
Burkardt DD, Zachariou A, Loveday C, Allen CL, Amor DJ, Ardissone A, Banka S, Bourgois A, Coubes C, Cytrynbaum C, Faivre L, Marion G, Horton R, Kotzot D, Lay-Son G, Lees M, Low K, Luk HM, Mark P, McConkie-Rosell A, McDonald M, Pappas J, Phillipe C, Shears D, Skotko B, Stewart F, Stewart H, Temple IK, Mau-Them FT, Verdugo RA, Weksberg R, Zarate YA, Graham JM, Tatton-Brown K. Burkardt DD, et al. Among authors: skotko b. Am J Med Genet A. 2019 Oct;179(10):2049-2055. doi: 10.1002/ajmg.a.61321. Epub 2019 Aug 9. Am J Med Genet A. 2019. PMID: 31400068
Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database.
Santoro SL, Cannon S, Capone G, Franklin C, Hart SJ, Hobensack V, Kishnani PS, Macklin EA, Manickam K, McCormick A, Nash P, Oreskovic NM, Patsiogiannis V, Steingass K, Torres A, Valentini D, Vellody K, Skotko BG. Santoro SL, et al. Among authors: skotko bg. Genet Med. 2020 Apr;22(4):767-776. doi: 10.1038/s41436-019-0706-8. Epub 2019 Nov 26. Genet Med. 2020. PMID: 31767984
Response to Zhang et al.
Hart SJ, Zimmerman K, Linardic CM, Cannon S, Pastore A, Patsiogiannis V, Rossi P, Santoro SL, Skotko BG, Torres A, Valentini D, Vellody K, Worley G, Kishnani PS. Hart SJ, et al. Among authors: skotko bg. Genet Med. 2020 Mar;22(3):662. doi: 10.1038/s41436-019-0690-z. Epub 2019 Nov 12. Genet Med. 2020. PMID: 31712672 No abstract available.
Response to Johansen Taber et al.
Skotko BG, Allyse MA, Bajaj K, Best RG, Leach M, Meredith S, Michie M, Stoll K. Skotko BG, et al. Genet Med. 2019 Nov;21(11):2660-2661. doi: 10.1038/s41436-019-0556-4. Epub 2019 Jun 3. Genet Med. 2019. PMID: 31155614 No abstract available.
Physical activity patterns in adults with Down Syndrome.
Oreskovic NM, Cottrell C, Torres A, Patsiogiannis V, Santoro S, Nichols D, Moore C, Skotko BG. Oreskovic NM, et al. Among authors: skotko bg. J Appl Res Intellect Disabil. 2020 Nov;33(6):1457-1464. doi: 10.1111/jar.12773. Epub 2020 Jul 13. J Appl Res Intellect Disabil. 2020. PMID: 32662165
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