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

Year Number of Results
1958 1
1960 1
1962 1
1966 1
1967 4
1968 2
1973 1
1983 2
1986 4
1988 4
1989 2
1990 3
1991 1
1992 4
1993 2
1994 2
1995 4
1996 6
1997 5
1998 4
1999 5
2000 2
2001 5
2002 3
2003 5
2004 4
2005 4
2006 5
2007 4
2008 7
2009 11
2010 13
2011 9
2012 19
2013 17
2014 20
2015 11
2016 8
2017 16
2018 11
2019 10
2020 15
2021 21
2022 14
2023 12
2024 2

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283 results

Results by year

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Page 1
Duchenne Muscular Dystrophy: From Diagnosis to Therapy.
Falzarano MS, Scotton C, Passarelli C, Ferlini A. Falzarano MS, et al. Among authors: ferlini a. Molecules. 2015 Oct 7;20(10):18168-84. doi: 10.3390/molecules201018168. Molecules. 2015. PMID: 26457695 Free PMC article. Review.
Recommendations for whole genome sequencing in diagnostics for rare diseases.
Souche E, Beltran S, Brosens E, Belmont JW, Fossum M, Riess O, Gilissen C, Ardeshirdavani A, Houge G, van Gijn M, Clayton-Smith J, Synofzik M, de Leeuw N, Deans ZC, Dincer Y, Eck SH, van der Crabben S, Balasubramanian M, Graessner H, Sturm M, Firth H, Ferlini A, Nabbout R, De Baere E, Liehr T, Macek M, Matthijs G, Scheffer H, Bauer P, Yntema HG, Weiss MM. Souche E, et al. Among authors: ferlini a. Eur J Hum Genet. 2022 Sep;30(9):1017-1021. doi: 10.1038/s41431-022-01113-x. Epub 2022 May 16. Eur J Hum Genet. 2022. PMID: 35577938 Free PMC article.
A single NGS-based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing.
Nallamilli BRR, Chaubey A, Valencia CA, Stansberry L, Behlmann AM, Ma Z, Mathur A, Shenoy S, Ganapathy V, Jagannathan L, Ramachander V, Ferlini A, Bean L, Hegde M. Nallamilli BRR, et al. Among authors: ferlini a. Hum Mutat. 2021 May;42(5):626-638. doi: 10.1002/humu.24191. Epub 2021 Mar 19. Hum Mutat. 2021. PMID: 33644936
Biomarkers in rare diseases.
Ferlini A, Scotton C, Novelli G. Ferlini A, et al. Public Health Genomics. 2013;16(6):313-21. doi: 10.1159/000355938. Epub 2014 Feb 3. Public Health Genomics. 2013. PMID: 24503592 Review.
Biomarkers in rare neuromuscular diseases.
Scotton C, Passarelli C, Neri M, Ferlini A. Scotton C, et al. Among authors: ferlini a. Exp Cell Res. 2014 Jul 1;325(1):44-9. doi: 10.1016/j.yexcr.2013.12.020. Epub 2013 Dec 31. Exp Cell Res. 2014. PMID: 24389168 Review.
283 results