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

Year Number of Results
2003 1
2004 2
2005 1
2007 4
2008 3
2009 3
2010 4
2011 5
2012 7
2013 6
2014 5
2015 1
2016 3
2017 3
2018 4
2021 1
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46 results
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Page 1
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, Vles JS, Voit T, Wassmer E, Weschke B, Whiteford ML, Willemsen MA, Zankl A, Zuberi SM, Orcesi S, Fazzi E, Lebon P, Crow YJ. Rice G, et al. Among authors: heiberg a. Am J Hum Genet. 2007 Oct;81(4):713-25. doi: 10.1086/521373. Epub 2007 Sep 4. Am J Hum Genet. 2007. PMID: 17846997 Free PMC article.
Recommendations for the predictive genetic test in Huntington's disease.
MacLeod R, Tibben A, Frontali M, Evers-Kiebooms G, Jones A, Martinez-Descales A, Roos RA; Editorial Committee and Working Group ‘Genetic Testing Counselling’ of the European Huntington Disease Network. MacLeod R, et al. Clin Genet. 2013 Mar;83(3):221-31. doi: 10.1111/j.1399-0004.2012.01900.x. Epub 2012 Jul 30. Clin Genet. 2013. PMID: 22642570 No abstract available.
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS, Zampini M, Briggs TA, Jenkinson EM, Bacino CA, Battini R, Bertini E, Brogan PA, Brueton LA, Carpanelli M, De Laet C, de Lonlay P, del Toro M, Desguerre I, Fazzi E, Garcia-Cazorla A, Heiberg A, Kawaguchi M, Kumar R, Lin JP, Lourenco CM, Male AM, Marques W Jr, Mignot C, Olivieri I, Orcesi S, Prabhakar P, Rasmussen M, Robinson RA, Rozenberg F, Schmidt JL, Steindl K, Tan TY, van der Merwe WG, Vanderver A, Vassallo G, Wakeling EL, Wassmer E, Whittaker E, Livingston JH, Lebon P, Suzuki T, McLaughlin PJ, Keegan LP, O'Connell MA, Lovell SC, Crow YJ. Rice GI, et al. Among authors: heiberg a. Nat Genet. 2012 Nov;44(11):1243-8. doi: 10.1038/ng.2414. Epub 2012 Sep 23. Nat Genet. 2012. PMID: 23001123 Free PMC article.
[A. Heiberg and colleagues reply].
Heiberg A, Frich J, Røttingen JA. Heiberg A, et al. Tidsskr Nor Laegeforen. 2014 Apr 29;134(8):809-10. doi: 10.4045/tidsskr.14.0451. eCollection 2014 Apr 29. Tidsskr Nor Laegeforen. 2014. PMID: 24780961 Free article. Norwegian. No abstract available.
[Huntington's disease].
Heiberg A. Heiberg A. Tidsskr Nor Laegeforen. 2008 Oct 9;128(19):2214-7. Tidsskr Nor Laegeforen. 2008. PMID: 18846148 Free article. Review. Norwegian.
[Complex craniofacial synostoses].
Meling TR, Ørstavik KH, Heiberg A. Meling TR, et al. Among authors: heiberg a. Tidsskr Nor Laegeforen. 2004 May 6;124(9):1230-4. Tidsskr Nor Laegeforen. 2004. PMID: 15131704 Free article. Review. Norwegian.
[Neurofibromatosis type 2 and auditory brainstem implantation].
Elvsåshagen T, Solyga V, Bakke SJ, Heiberg A, Kerty E. Elvsåshagen T, et al. Among authors: heiberg a. Tidsskr Nor Laegeforen. 2009 Aug 13;129(15):1469-73. doi: 10.4045/tidsskr.08.0151. Tidsskr Nor Laegeforen. 2009. PMID: 19690597 Free article. Review. Norwegian.
Effect of epilepsy on autism symptoms in Angelman syndrome.
Bakke KA, Howlin P, Retterstøl L, Kanavin ØJ, Heiberg A, Nærland T. Bakke KA, et al. Among authors: heiberg a. Mol Autism. 2018 Jan 8;9:2. doi: 10.1186/s13229-017-0185-1. eCollection 2018. Mol Autism. 2018. PMID: 29340132 Free PMC article.
Biallelic variants in KIF14 cause intellectual disability with microcephaly.
Makrythanasis P, Maroofian R, Stray-Pedersen A, Musaev D, Zaki MS, Mahmoud IG, Selim L, Elbadawy A, Jhangiani SN, Coban Akdemir ZH, Gambin T, Sorte HS, Heiberg A, McEvoy-Venneri J, James KN, Stanley V, Belandres D, Guipponi M, Santoni FA, Ahangari N, Tara F, Doosti M, Iwaszkiewicz J, Zoete V, Backe PH, Hamamy H, Gleeson JG, Lupski JR, Karimiani EG, Antonarakis SE. Makrythanasis P, et al. Among authors: heiberg a. Eur J Hum Genet. 2018 Mar;26(3):330-339. doi: 10.1038/s41431-017-0088-9. Epub 2018 Jan 17. Eur J Hum Genet. 2018. PMID: 29343805 Free PMC article.
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