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

Year Number of Results
1996 1
2003 1
2004 1
2005 2
2008 3
2009 1
2011 4
2012 3
2013 1
2014 1
2015 2
2024 0

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19 results

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Page 1
Infantile cardioencephalopathy due to a COX15 gene defect: report and review.
Alfadhel M, Lillquist YP, Waters PJ, Sinclair G, Struys E, McFadden D, Hendson G, Hyams L, Shoffner J, Vallance HD. Alfadhel M, et al. Among authors: lillquist yp. Am J Med Genet A. 2011 Apr;155A(4):840-4. doi: 10.1002/ajmg.a.33881. Epub 2011 Mar 15. Am J Med Genet A. 2011. PMID: 21412973 Review.
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.
Wortmann SB, Ziętkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW, Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T, Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, Golzio C, Jansen JH, van Karnebeek C, Lillquist Y, Lücke T, Õunap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink JN, Vaz FM, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen MA, de Brouwer AP, Prokisch H, Katsanis N, Wevers RA. Wortmann SB, et al. Among authors: lillquist y. Am J Hum Genet. 2015 Feb 5;96(2):245-57. doi: 10.1016/j.ajhg.2014.12.013. Epub 2015 Jan 15. Am J Hum Genet. 2015. PMID: 25597510 Free PMC article.
Long term effects of denufosol tetrasodium in patients with cystic fibrosis.
Ratjen F, Durham T, Navratil T, Schaberg A, Accurso FJ, Wainwright C, Barnes M, Moss RB; TIGER-2 Study Investigator Group. Ratjen F, et al. J Cyst Fibros. 2012 Dec;11(6):539-49. doi: 10.1016/j.jcf.2012.05.003. Epub 2012 Jun 8. J Cyst Fibros. 2012. PMID: 22682898 Free article. Clinical Trial.
Individualized long-term outcomes in blood phenylalanine concentrations and dietary phenylalanine tolerance in 11 patients with primary phenylalanine hydroxylase (PAH) deficiency treated with Sapropterin-dihydrochloride.
Stockler-Ipsiroglu S, Yuskiv N, Salvarinova R, Apatean D, Ho G, Cheng B, Giezen A, Lillquist Y, Ueda K. Stockler-Ipsiroglu S, et al. Among authors: lillquist y. Mol Genet Metab. 2015 Mar;114(3):409-14. doi: 10.1016/j.ymgme.2014.11.014. Epub 2014 Dec 3. Mol Genet Metab. 2015. PMID: 25497838 Free article.
19 results