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

Year Number of Results
2010 17
2011 49
2012 35
2013 40
2014 45
2015 29
2016 15
2017 9
2018 7
2019 3
2020 1
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171 results
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Page 1
Clinical utility gene card for: 16p12.2 microdeletion.
Pizzo L, Andrieux J, Amor DJ, Girirajan S. Pizzo L, et al. Eur J Hum Genet. 2017 Feb;25(2). doi: 10.1038/ejhg.2016.158. Epub 2016 Nov 16. Eur J Hum Genet. 2017. PMID: 27848943 Free PMC article. No abstract available.
Clinical utility gene card for McArdle disease.
Taylor RL, Davis M, Turner E, Brull A, Pinos T, Cabrera M, Nowak KJ. Taylor RL, et al. Eur J Hum Genet. 2018 May;26(5):758-764. doi: 10.1038/s41431-017-0070-6. Epub 2018 Jan 25. Eur J Hum Genet. 2018. PMID: 29371640 Free PMC article.
Name of the disease (synonyms) McArdle disease (glycogenosis type V; glycogen storage disease V (GSDV); PYGM deficiency; muscle glycogen phosphorylase deficiency; myophosphorylase deficiency). OMIM# of the disease #232600. Name of the analysed genes or DNA/chromosome segme …
Name of the disease (synonyms) McArdle disease (glycogenosis type V; glycogen storage disease V (GSDV); PYGM deficiency; muscle glycogen pho …
Clinical utility gene card: for pseudoxanthoma elasticum.
Legrand A, Benistan K, Mazzella JM, Adham S, Frank M, Jeunemaitre X, Albuisson J. Legrand A, et al. Eur J Hum Genet. 2018 Jun;26(6):919-924. doi: 10.1038/s41431-017-0090-2. Epub 2018 Feb 27. Eur J Hum Genet. 2018. PMID: 29487417 Free PMC article. No abstract available.
Clinical utility gene card for: 16p13.11 microdeletion syndrome.
Tropeano M, Andrieux J, Collier DA. Tropeano M, et al. Eur J Hum Genet. 2014 May;22(5). doi: 10.1038/ejhg.2013.230. Epub 2013 Oct 9. Eur J Hum Genet. 2014. PMID: 24105370 Free PMC article. No abstract available.
Clinical utility gene card: for incontinentia pigmenti.
Fusco F, Pescatore A, Steffann J, Bonnefont JP, De Oliveira J, Lioi MB, Ursini MV. Fusco F, et al. Eur J Hum Genet. 2019 Dec;27(12):1894-1900. doi: 10.1038/s41431-019-0463-9. Epub 2019 Jul 9. Eur J Hum Genet. 2019. PMID: 31289372 No abstract available.
Clinical utility gene card for: Tangier disease.
Hooper AJ, McCormick SPA, Hegele RA, Burnett JR. Hooper AJ, et al. Eur J Hum Genet. 2017 Jun;25(7):e1-3. doi: 10.1038/ejhg.2017.72. Epub 2017 May 24. Eur J Hum Genet. 2017. PMID: 28537273 Free PMC article. No abstract available.
Clinical utility gene card for: Cantu syndrome.
Kirk EP, Scurr I, van Haaften G, van Haelst MM, Nichols CG, Williams M, Smithson SF, Grange DK. Kirk EP, et al. Eur J Hum Genet. 2017 Apr;25(4). doi: 10.1038/ejhg.2016.185. Epub 2017 Jan 4. Eur J Hum Genet. 2017. PMID: 28051078 Free PMC article. No abstract available.
Clinical Utility Gene Card for: Becker muscular dystrophy.
Coote D, Davis MR, Cabrera M, Needham M, Laing NG, Nowak KJ. Coote D, et al. Eur J Hum Genet. 2018 Jul;26(7):1065-1071. doi: 10.1038/s41431-017-0064-4. Epub 2018 Feb 21. Eur J Hum Genet. 2018. PMID: 29467387 Free PMC article. No abstract available.
Clinical utility gene card for: Aniridia.
Richardson R, Hingorani M, Van Heyningen V, Gregory-Evans C, Moosajee M. Richardson R, et al. Eur J Hum Genet. 2016 Nov;24(11). doi: 10.1038/ejhg.2016.73. Epub 2016 Jul 6. Eur J Hum Genet. 2016. PMID: 27381094 Free PMC article. No abstract available.
Clinical utility gene card for: Sitosterolaemia.
Hooper AJ, Bell DA, Hegele RA, Burnett JR. Hooper AJ, et al. Eur J Hum Genet. 2017 Apr;25(4). doi: 10.1038/ejhg.2016.187. Epub 2016 Dec 28. Eur J Hum Genet. 2017. PMID: 28029149 Free PMC article. No abstract available.
171 results
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