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Year Number of Results
2002 2
2003 3
2005 1
2008 1
2011 1
2012 3
2013 2
2014 1
2015 1
2016 4
2017 4
2018 5
2021 0
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24 results
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Page 1
Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder.
Rose S, Niyazov DM, Rossignol DA, Goldenthal M, Kahler SG, Frye RE. Rose S, et al. Among authors: kahler sg. Mol Diagn Ther. 2018 Oct;22(5):571-593. doi: 10.1007/s40291-018-0352-x. Mol Diagn Ther. 2018. PMID: 30039193 Free PMC article. Review.
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, Pereira S, Perrin D, Phelan K, Aguilar RE, Poddighe PJ, Pregno G, Raskin S, Reis L, Rhead W, Rita D, Renkens I, Roelens F, Ruliera J, Rump P, Schilit SL, Shaheen R, Sparkes R, Spiegel E, Stevens B, Stone MR, Tagoe J, Thakuria JV, van Bon BW, van de Kamp J, van Der Burgt I, van Essen T, van Ravenswaaij-Arts CM, van Roosmalen MJ, Vergult S, Volker-Touw CM, Warburton DP, Waterman MJ, Wiley S, Wilson A, Yerena-de Vega MC, Zori RT, Levy B, Brunner HG, de Leeuw N, Kloosterman WP, Thorland EC, Morton CC, Gusella JF, Talkowski ME. Redin C, et al. Among authors: kahler sg. Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14. Nat Genet. 2017. PMID: 27841880 Free PMC article.
Intravenous immunoglobulin for the treatment of autoimmune encephalopathy in children with autism.
Connery K, Tippett M, Delhey LM, Rose S, Slattery JC, Kahler SG, Hahn J, Kruger U, Cunningham MW, Shimasaki C, Frye RE. Connery K, et al. Among authors: kahler sg. Transl Psychiatry. 2018 Aug 10;8(1):148. doi: 10.1038/s41398-018-0214-7. Transl Psychiatry. 2018. PMID: 30097568 Free PMC article.
Butyrate enhances mitochondrial function during oxidative stress in cell lines from boys with autism.
Rose S, Bennuri SC, Davis JE, Wynne R, Slattery JC, Tippett M, Delhey L, Melnyk S, Kahler SG, MacFabe DF, Frye RE. Rose S, et al. Among authors: kahler sg. Transl Psychiatry. 2018 Feb 2;8(1):42. doi: 10.1038/s41398-017-0089-z. Transl Psychiatry. 2018. PMID: 29391397 Free PMC article.
Metabolic disorders and mental retardation.
Kahler SG, Fahey MC. Kahler SG, et al. Am J Med Genet C Semin Med Genet. 2003 Feb 15;117C(1):31-41. doi: 10.1002/ajmg.c.10018. Am J Med Genet C Semin Med Genet. 2003. PMID: 12561056 Review.
Enteric Ecosystem Disruption in Autism Spectrum Disorder: Can the Microbiota and Macrobiota be Restored?
Slattery J, MacFabe DF, Kahler SG, Frye RE. Slattery J, et al. Among authors: kahler sg. Curr Pharm Des. 2016;22(40):6107-6121. doi: 10.2174/1381612822666160905123953. Curr Pharm Des. 2016. PMID: 27592717 Review.
Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency.
Vissing J, Akman HO, Aasly J, Kahler SG, Bacino CA, DiMauro S, Haller RG. Vissing J, et al. Among authors: kahler sg. Neurology. 2018 Sep 11;91(11):e1077-e1082. doi: 10.1212/WNL.0000000000006165. Epub 2018 Aug 15. Neurology. 2018. PMID: 30111548
LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV.
Szafranski P, Kośmider E, Liu Q, Karolak JA, Currie L, Parkash S, Kahler SG, Roeder E, Littlejohn RO, DeNapoli TS, Shardonofsky FR, Henderson C, Powers G, Poisson V, Bérubé D, Oligny L, Michaud JL, Janssens S, De Coen K, Van Dorpe J, Dheedene A, Harting MT, Weaver MD, Khan AM, Tatevian N, Wambach J, Gibbs KA, Popek E, Gambin A, Stankiewicz P. Szafranski P, et al. Among authors: kahler sg. Hum Mutat. 2018 Dec;39(12):1916-1925. doi: 10.1002/humu.23608. Epub 2018 Aug 22. Hum Mutat. 2018. PMID: 30084155 Free PMC article.
The Effect of Mitochondrial Supplements on Mitochondrial Activity in Children with Autism Spectrum Disorder.
Delhey LM, Nur Kilinc E, Yin L, Slattery JC, Tippett ML, Rose S, Bennuri SC, Kahler SG, Damle S, Legido A, Goldenthal MJ, Frye RE. Delhey LM, et al. Among authors: kahler sg. J Clin Med. 2017 Feb 13;6(2):18. doi: 10.3390/jcm6020018. J Clin Med. 2017. PMID: 28208802 Free PMC article.
Blocking and Binding Folate Receptor Alpha Autoantibodies Identify Novel Autism Spectrum Disorder Subgroups.
Frye RE, Delhey L, Slattery J, Tippett M, Wynne R, Rose S, Kahler SG, Bennuri SC, Melnyk S, Sequeira JM, Quadros E. Frye RE, et al. Among authors: kahler sg. Front Neurosci. 2016 Mar 9;10:80. doi: 10.3389/fnins.2016.00080. eCollection 2016. Front Neurosci. 2016. PMID: 27013943 Free PMC article.
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