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

Year Number of Results
2002 1
2003 8
2004 3
2005 3
2006 3
2007 6
2008 6
2009 5
2010 8
2011 7
2012 6
2013 15
2014 11
2015 8
2016 3
2017 5
2018 6
2019 6
2020 9
2021 4
2022 2
2023 14
2024 3

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126 results

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Page 1
Genetics of COVID-19.
Raskin S. Raskin S. J Pediatr (Rio J). 2021 Jul-Aug;97(4):378-386. doi: 10.1016/j.jped.2020.09.002. Epub 2020 Oct 7. J Pediatr (Rio J). 2021. PMID: 33058776 Free PMC article. Review.
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Akula SK, Chen AY, Neil JE, Shao DD, Mo A, Hylton NK, DiTroia S, Ganesh VS, Smith RS, O'Kane K, Yeh RC, Marciano JH, Kirkham S, Kenny CJ, Song JHT, Al Saffar M, Millan F, Harris DJ, Murphy AV, Klemp KC, Braddock SR, Brand H, Wong I, Talkowski ME, O'Donnell-Luria A, Lai A, Hill RS, Mochida GH, Doan RN, Barkovich AJ, Yang E, Amrom D, Andermann E, Poduri A, Walsh CA; Polymicrogyria Genetics Research Network. Akula SK, et al. JAMA Neurol. 2023 Sep 1;80(9):980-988. doi: 10.1001/jamaneurol.2023.2363. JAMA Neurol. 2023. PMID: 37486637 Free PMC article.
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch'ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM Jr, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID. Kaur M, et al. Among authors: raskin s. Am J Med Genet A. 2023 Aug;191(8):2113-2131. doi: 10.1002/ajmg.a.63247. Epub 2023 Jun 28. Am J Med Genet A. 2023. PMID: 37377026
Neuroradiological Findings in the Spinocerebellar Ataxias.
Meira AT, Arruda WO, Ono SE, Neto AC, Raskin S, Camargo CHF, Teive HAG. Meira AT, et al. Among authors: raskin s. Tremor Other Hyperkinet Mov (N Y). 2019 Sep 26;9. doi: 10.7916/tohm.v0.682. eCollection 2019. Tremor Other Hyperkinet Mov (N Y). 2019. PMID: 31632837 Free PMC article. Review.
Muscle Cramps Profile among Spinocerebellar Ataxias.
Franklin GL, Ferreira Camargo CH, Balaban D, Marcon JM, Raskin S, Meira AT, Ghizoni Teive HA. Franklin GL, et al. Among authors: raskin s. Ann Indian Acad Neurol. 2022 Jul-Aug;25(4):718-719. doi: 10.4103/aian.aian_942_21. Epub 2022 Jan 5. Ann Indian Acad Neurol. 2022. PMID: 36211173 Free PMC article. No abstract available.
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.
Tenney AP, Di Gioia SA, Webb BD, Chan WM, de Boer E, Garnai SJ, Barry BJ, Ray T, Kosicki M, Robson CD, Zhang Z, Collins TE, Gelber A, Pratt BM, Fujiwara Y, Varshney A, Lek M, Warburton PE, Van Ryzin C, Lehky TJ, Zalewski C, King KA, Brewer CC, Thurm A, Snow J, Facio FM, Narisu N, Bonnycastle LL, Swift A, Chines PS, Bell JL, Mohan S, Whitman MC, Staffieri SE, Elder JE, Demer JL, Torres A, Rachid E, Al-Haddad C, Boustany RM, Mackey DA, Brady AF, Fenollar-Cortés M, Fradin M, Kleefstra T, Padberg GW, Raskin S, Sato MT, Orkin SH, Parker SCJ, Hadlock TA, Vissers LELM, van Bokhoven H, Jabs EW, Collins FS, Pennacchio LA, Manoli I, Engle EC. Tenney AP, et al. Among authors: raskin s. Nat Genet. 2023 Jul;55(7):1149-1163. doi: 10.1038/s41588-023-01424-9. Epub 2023 Jun 29. Nat Genet. 2023. PMID: 37386251 Free PMC article.
Olfactory Function in SCA10.
Moscovich M, Munhoz RP, Moro A, Raskin S, McFarland K, Ashizawa T, Teive HAG, Silveira-Moriyama L. Moscovich M, et al. Among authors: raskin s. Cerebellum. 2019 Feb;18(1):85-90. doi: 10.1007/s12311-018-0954-1. Cerebellum. 2019. PMID: 29922950 Free PMC article.
Spinocerebellar ataxia type 10 - A review.
Teive HA, Munhoz RP, Arruda WO, Raskin S, Werneck LC, Ashizawa T. Teive HA, et al. Among authors: raskin s. Parkinsonism Relat Disord. 2011 Nov;17(9):655-61. doi: 10.1016/j.parkreldis.2011.04.001. Epub 2011 Apr 29. Parkinsonism Relat Disord. 2011. PMID: 21531163 Review.
Folic acid for the prevention of neural tube defects.
Fonseca EB, Raskin S, Zugaib M. Fonseca EB, et al. Among authors: raskin s. Rev Bras Ginecol Obstet. 2013 Jul;35(7):287-9. doi: 10.1590/s0100-72032013000700001. Rev Bras Ginecol Obstet. 2013. PMID: 24080839 No abstract available.
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Strong A, Rao S, von Hardenberg S, Li D, Cox LL, Lee PC, Zhang LQ, Awotoye W, Diamond T, Gold J, Gooch C, Gowans LJJ, Hakonarson H, Hing A, Loomes K, Martin N, Marazita ML, Mononen T, Piccoli D, Pfundt R, Raskin S, Scherer SW, Sobriera N, Vaccaro C, Wang X, Watson D, Weksberg R, Bhoj E, Murray JC, Lidral AC, Butali A, Buckley MF, Roscioli T, Koolen DA, Seaver LH, Prows CA, Stottmann RW, Cox TC. Strong A, et al. Among authors: raskin s. Am J Med Genet A. 2023 May;191(5):1227-1239. doi: 10.1002/ajmg.a.63130. Epub 2023 Feb 7. Am J Med Genet A. 2023. PMID: 36751037 Free PMC article.
126 results