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

Year Number of Results
1983 1
1994 1
1997 2
2000 1
2003 1
2004 2
2006 2
2007 1
2008 1
2009 7
2010 1
2011 4
2012 5
2013 3
2014 2
2015 3
2016 2
2017 4
2018 3
2019 4
2020 3
2021 3
2022 6
2023 4
2024 0

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59 results

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Page 1
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge.
Musante L, Costa P, Zanus C, Faletra F, Murru FM, Bianco AM, La Bianca M, Ragusa G, Athanasakis E, d'Adamo AP, Carrozzi M, Gasparini P. Musante L, et al. Among authors: carrozzi m. Genes (Basel). 2022 Mar 12;13(3):500. doi: 10.3390/genes13030500. Genes (Basel). 2022. PMID: 35328054 Free PMC article.
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
Musante L, Faletra F, Meier K, Tomoum H, Najarzadeh Torbati P, Blair E, North S, Gärtner J, Diegmann S, Beiraghi Toosi M, Ashrafzadeh F, Ghayoor Karimiani E, Murphy D, Murru FM, Zanus C, Magnolato A, La Bianca M, Feresin A, Girotto G, Gasparini P, Costa P, Carrozzi M. Musante L, et al. Among authors: carrozzi m. Am J Med Genet A. 2022 Sep;188(9):2652-2665. doi: 10.1002/ajmg.a.62852. Epub 2022 Jun 7. Am J Med Genet A. 2022. PMID: 35670379 Free PMC article.
Extra-large letter spacing improves reading in dyslexia.
Zorzi M, Barbiero C, Facoetti A, Lonciari I, Carrozzi M, Montico M, Bravar L, George F, Pech-Georgel C, Ziegler JC. Zorzi M, et al. Among authors: carrozzi m. Proc Natl Acad Sci U S A. 2012 Jul 10;109(28):11455-9. doi: 10.1073/pnas.1205566109. Epub 2012 Jun 4. Proc Natl Acad Sci U S A. 2012. PMID: 22665803 Free PMC article.
1q44-qter trisomy: clinical report and review of the literature.
Lenzini E, Ballarati L, Drigo P, Carrozzi M, Gambel-Benussi D, Giardino D, Petix V, Rizzotto MR, Pecile V. Lenzini E, et al. Among authors: carrozzi m. Genet Test Mol Biomarkers. 2009 Feb;13(1):79-86. doi: 10.1089/gtmb.2008.0075. Genet Test Mol Biomarkers. 2009. PMID: 19309278 Review.
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.
Trimouille A, Houcinat N, Vuillaume ML, Fergelot P, Boucher C, Toutain J, Caignec CL, Vincent M, Nizon M, Andrieux J, Vanlerberghe C, Delobel B, Duban B, Mansour S, Baple E, McKeown C, Poke G, Robertshaw K, Fifield E, Fabretto A, Pecile V, Gasparini P, Carrozzi M, Lacombe D, Arveiler B, Rooryck C, Moutton S. Trimouille A, et al. Among authors: carrozzi m. Eur J Hum Genet. 2018 Jan;26(1):85-93. doi: 10.1038/s41431-017-0037-7. Epub 2017 Nov 28. Eur J Hum Genet. 2018. PMID: 29184170 Free PMC article.
59 results