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

Year Number of Results
1973 3
1974 4
1976 3
1977 1
1978 6
1979 2
1980 2
1981 2
1982 7
1983 2
1984 2
1987 1
1988 2
1989 2
1990 3
1991 2
1992 5
1993 11
1994 4
1995 12
1996 9
1997 13
1998 11
1999 11
2000 6
2001 7
2002 8
2003 9
2004 5
2005 9
2006 18
2007 13
2008 7
2009 10
2010 7
2011 5
2012 9
2013 10
2014 11
2015 4
2016 5
2017 11
2018 4
2020 5
2021 0
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Search Results

267 results
Results by year
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Page 1
DNM1 encephalopathy: A new disease of vesicle fission.
von Spiczak S, Helbig KL, Shinde DN, Huether R, Pendziwiat M, Lourenço C, Nunes ME, Sarco DP, Kaplan RA, Dlugos DJ, Kirsch H, Slavotinek A, Cilio MR, Cervenka MC, Cohen JS, McClellan R, Fatemi A, Yuen A, Sagawa Y, Littlejohn R, McLean SD, Hernandez-Hernandez L, Maher B, Møller RS, Palmer E, Lawson JA, Campbell CA, Joshi CN, Kolbe DL, Hollingsworth G, Neubauer BA, Muhle H, Stephani U, Scheffer IE, Pena SDJ, Sisodiya SM, Helbig I; Epi4K Consortium; EuroEPINOMICS-RES NLES Working Group. von Spiczak S, et al. Among authors: pena sdj. Neurology. 2017 Jul 25;89(4):385-394. doi: 10.1212/WNL.0000000000004152. Epub 2017 Jun 30. Neurology. 2017. PMID: 28667181 Free PMC article.
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
Masnada S, Hedrich UBS, Gardella E, Schubert J, Kaiwar C, Klee EW, Lanpher BC, Gavrilova RH, Synofzik M, Bast T, Gorman K, King MD, Allen NM, Conroy J, Ben Zeev B, Tzadok M, Korff C, Dubois F, Ramsey K, Narayanan V, Serratosa JM, Giraldez BG, Helbig I, Marsh E, O'Brien M, Bergqvist CA, Binelli A, Porter B, Zaeyen E, Horovitz DD, Wolff M, Marjanovic D, Caglayan HS, Arslan M, Pena SDJ, Sisodiya SM, Balestrini S, Syrbe S, Veggiotti P, Lemke JR, Møller RS, Lerche H, Rubboli G. Masnada S, et al. Among authors: pena sdj. Brain. 2017 Sep 1;140(9):2337-2354. doi: 10.1093/brain/awx184. Brain. 2017. PMID: 29050392
A human immunodeficiency syndrome caused by mutations in CARMIL2.
Schober T, Magg T, Laschinger M, Rohlfs M, Linhares ND, Puchalka J, Weisser T, Fehlner K, Mautner J, Walz C, Hussein K, Jaeger G, Kammer B, Schmid I, Bahia M, Pena SD, Behrends U, Belohradsky BH, Klein C, Hauck F. Schober T, et al. Among authors: pena sd. Nat Commun. 2017 Jan 23;8:14209. doi: 10.1038/ncomms14209. Nat Commun. 2017. PMID: 28112205 Free PMC article.
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.
Allen NM, Conroy J, Shahwan A, Lynch B, Correa RG, Pena SD, McCreary D, Magalhães TR, Ennis S, Lynch SA, King MD. Allen NM, et al. Among authors: pena sd. Epilepsia. 2016 Jan;57(1):e12-7. doi: 10.1111/epi.13250. Epub 2015 Dec 9. Epilepsia. 2016. PMID: 26648591 Free article.
Genetic admixture in Brazil.
Pena SDJ, Santos FR, Tarazona-Santos E. Pena SDJ, et al. Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):928-938. doi: 10.1002/ajmg.c.31853. Epub 2020 Nov 18. Am J Med Genet C Semin Med Genet. 2020. PMID: 33205899
The Influence of Recombinational Processes to Induce Dormancy in Trypanosoma cruzi.
Resende BC, Oliveira ACS, Guañabens ACP, Repolês BM, Santana V, Hiraiwa PM, Pena SDJ, Franco GR, Macedo AM, Tahara EB, Fragoso SP, Andrade LO, Machado CR. Resende BC, et al. Among authors: pena sdj. Front Cell Infect Microbiol. 2020 Jan 28;10:5. doi: 10.3389/fcimb.2020.00005. eCollection 2020. Front Cell Infect Microbiol. 2020. PMID: 32117793 Free PMC article.
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females.
Li D, Strong A, Shen KM, Cassiman D, Van Dyck M, Linhares ND, Valadares ER, Wang T, Pena SDJ, Jaeken J, Vergano S, Zackai E, Hing A, Chow P, Ganguly A, Scholz T, Bierhals T, Philipp D, Hakonarson H, Bhoj E. Li D, et al. Among authors: pena sdj. Genet Med. 2020 Nov 27. doi: 10.1038/s41436-020-01031-7. Online ahead of print. Genet Med. 2020. PMID: 33244166
Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions.
Watson CM, Crinnion LA, Lindsay H, Mitchell R, Camm N, Robinson R, Joyce C, Tanteles GA, Halloran DJO, Pena SDJ, Carr IM, Bonthron DT. Watson CM, et al. Among authors: pena sdj. Lab Invest. 2020 Sep 28. doi: 10.1038/s41374-020-00489-y. Online ahead of print. Lab Invest. 2020. PMID: 32989232
Differential Modulation of Mouse Heart Gene Expression by Infection With Two Trypanosoma cruzi Strains: A Transcriptome Analysis.
de Castro TBR, Canesso MCC, Boroni M, Chame DF, Souza DL, de Toledo NE, Tahara EB, Pena SD, Machado CR, Chiari E, Macedo A, Franco GR. de Castro TBR, et al. Among authors: pena sd. Front Genet. 2020 Sep 3;11:1031. doi: 10.3389/fgene.2020.01031. eCollection 2020. Front Genet. 2020. PMID: 33088283 Free PMC article.
Brief introduction to human DNA fingerprinting.
Jeffreys AJ, Pena SD. Jeffreys AJ, et al. Among authors: pena sd. EXS. 1993;67:1-20. doi: 10.1007/978-3-0348-8583-6_1. EXS. 1993. PMID: 8400683 Review. No abstract available.
267 results
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