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Results by year

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

Year Number of Results
1993 1
2002 1
2003 1
2004 2
2005 2
2007 1
2008 1
2011 1
2012 1
2013 2
2015 1
2017 2
2018 1
2021 5
2024 0

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Publication date

PubMed for id: 199857

19 results

Results by year

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Page 1
Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG.
Schorling DC, Rost S, Lefeber DJ, Brady L, Müller CR, Korinthenberg R, Tarnopolsky M, Bönnemann CG, Rodenburg RJ, Bugiani M, Beytia M, Krüger M, van der Knaap M, Kirschner J. Schorling DC, et al. Neurology. 2017 Aug 15;89(7):657-664. doi: 10.1212/WNL.0000000000004234. Epub 2017 Jul 21. Neurology. 2017. PMID: 28733338 Free PMC article.
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.
Cossins J, Belaya K, Hicks D, Salih MA, Finlayson S, Carboni N, Liu WW, Maxwell S, Zoltowska K, Farsani GT, Laval S, Seidhamed MZ; WGS500 Consortium; Donnelly P, Bentley D, McGowan SJ, Müller J, Palace J, Lochmüller H, Beeson D. Cossins J, et al. Brain. 2013 Mar;136(Pt 3):944-56. doi: 10.1093/brain/awt010. Epub 2013 Feb 11. Brain. 2013. PMID: 23404334 Free PMC article.
Congenital Myasthenic Syndromes Overview.
Abicht A, Müller JS, Lochmüller H. Abicht A, et al. 2003 May 9 [updated 2021 Dec 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2003 May 9 [updated 2021 Dec 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301347 Free Books & Documents. Review.
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
Demirkan A, van Duijn CM, Ugocsai P, Isaacs A, Pramstaller PP, Liebisch G, Wilson JF, Johansson Å, Rudan I, Aulchenko YS, Kirichenko AV, Janssens AC, Jansen RC, Gnewuch C, Domingues FS, Pattaro C, Wild SH, Jonasson I, Polasek O, Zorkoltseva IV, Hofman A, Karssen LC, Struchalin M, Floyd J, Igl W, Biloglav Z, Broer L, Pfeufer A, Pichler I, Campbell S, Zaboli G, Kolcic I, Rivadeneira F, Huffman J, Hastie ND, Uitterlinden A, Franke L, Franklin CS, Vitart V; DIAGRAM Consortium; Nelson CP, Preuss M; CARDIoGRAM Consortium; Bis JC, O'Donnell CJ, Franceschini N; CHARGE Consortium; Witteman JC, Axenovich T, Oostra BA, Meitinger T, Hicks AA, Hayward C, Wright AF, Gyllensten U, Campbell H, Schmitz G; EUROSPAN consortium. Demirkan A, et al. PLoS Genet. 2012;8(2):e1002490. doi: 10.1371/journal.pgen.1002490. Epub 2012 Feb 16. PLoS Genet. 2012. PMID: 22359512 Free PMC article.
Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.
Wu JH, Lemaitre RN, Manichaikul A, Guan W, Tanaka T, Foy M, Kabagambe EK, Djousse L, Siscovick D, Fretts AM, Johnson C, King IB, Psaty BM, McKnight B, Rich SS, Chen YD, Nettleton JA, Tang W, Bandinelli S, Jacobs DR Jr, Browning BL, Laurie CC, Gu X, Tsai MY, Steffen LM, Ferrucci L, Fornage M, Mozaffarian D. Wu JH, et al. Circ Cardiovasc Genet. 2013 Apr;6(2):171-83. doi: 10.1161/CIRCGENETICS.112.964619. Epub 2013 Jan 29. Circ Cardiovasc Genet. 2013. PMID: 23362303 Free PMC article.
19 results