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

Year Number of Results
1965 1
1969 2
1971 1
1991 2
1992 1
1993 2
1997 1
2001 2
2004 3
2005 3
2006 3
2007 1
2011 3
2012 4
2013 6
2014 6
2015 6
2016 11
2017 12
2018 13
2019 6
2020 15
2021 21
2022 4
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Article type
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Search Results

114 results
Results by year
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Page 1
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
Aspromonte MC, Bellini M, Gasparini A, Carraro M, Bettella E, Polli R, Cesca F, Bigoni S, Boni S, Carlet O, Negrin S, Mammi I, Milani D, Peron A, Sartori S, Toldo I, Soli F, Turolla L, Stanzial F, Benedicenti F, Marino-Buslje C, Tosatto SCE, Murgia A, Leonardi E. Aspromonte MC, et al. Among authors: peron a. Hum Mutat. 2019 Sep;40(9):1346-1363. doi: 10.1002/humu.23822. Epub 2019 Aug 2. Hum Mutat. 2019. PMID: 31209962 Free PMC article.
Snyder-Robinson Syndrome.
Schwartz CE, Peron A, Kutler MJ. Schwartz CE, et al. Among authors: peron a. 2013 Jun 27 [updated 2020 Feb 13]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2013 Jun 27 [updated 2020 Feb 13]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 23805436 Free Books & Documents. Review.
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
Reynolds JJ, Bicknell LS, Carroll P, Higgs MR, Shaheen R, Murray JE, Papadopoulos DK, Leitch A, Murina O, Tarnauskaitė Ž, Wessel SR, Zlatanou A, Vernet A, von Kriegsheim A, Mottram RM, Logan CV, Bye H, Li Y, Brean A, Maddirevula S, Challis RC, Skouloudaki K, Almoisheer A, Alsaif HS, Amar A, Prescott NJ, Bober MB, Duker A, Faqeih E, Seidahmed MZ, Al Tala S, Alswaid A, Ahmed S, Al-Aama JY, Altmüller J, Al Balwi M, Brady AF, Chessa L, Cox H, Fischetto R, Heller R, Henderson BD, Hobson E, Nürnberg P, Percin EF, Peron A, Spaccini L, Quigley AJ, Thakur S, Wise CA, Yoon G, Alnemer M, Tomancak P, Yigit G, Taylor AM, Reijns MA, Simpson MA, Cortez D, Alkuraya FS, Mathew CG, Jackson AP, Stewart GS. Reynolds JJ, et al. Among authors: peron a. Nat Genet. 2017 Apr;49(4):537-549. doi: 10.1038/ng.3790. Epub 2017 Feb 13. Nat Genet. 2017. PMID: 28191891 Free PMC article.
BCL11A-Related Intellectual Disability.
Peron A, Bradbury K, Viskochil DH, Dias C. Peron A, et al. 2019 Sep 26. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2019 Sep 26. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 31556984 Free Books & Documents. Review.
Tuberous sclerosis complex.
Peron A, Northrup H. Peron A, et al. Am J Med Genet C Semin Med Genet. 2018 Sep;178(3):274-277. doi: 10.1002/ajmg.c.31657. Epub 2018 Oct 16. Am J Med Genet C Semin Med Genet. 2018. PMID: 30325570 No abstract available.
Epilepsy in adult patients with tuberous sclerosis complex.
Vignoli A, La Briola F, Turner K, Peron A, Vannicola C, Chiesa V, Zambrelli E, Bruschi F, Viganò I, Canevini MP. Vignoli A, et al. Among authors: peron a. Acta Neurol Scand. 2021 Jul;144(1):29-40. doi: 10.1111/ane.13416. Epub 2021 Mar 22. Acta Neurol Scand. 2021. PMID: 33748956 Free PMC article.
114 results