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Results by year

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

Year Number of Results
1956 1
1958 1
1961 1
1963 1
1964 2
1965 2
1966 1
1967 2
1968 5
1970 1
1971 1
1972 1
1974 1
1978 1
1979 2
1983 2
1985 3
1987 5
1988 3
1989 6
1990 4
1991 2
1992 2
1993 1
1994 4
1995 1
1996 1
1997 3
1998 3
1999 7
2000 5
2001 1
2002 2
2003 3
2004 8
2006 3
2007 2
2008 1
2009 1
2010 2
2011 10
2012 11
2013 5
2014 5
2015 2
2016 3
2017 5
2018 6
2019 1
2020 4
2021 15
2022 18
2023 22
2024 9

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194 results

Results by year

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Page 1
Perinatal and Early-Life Nutrition, Epigenetics, and Allergy.
Acevedo N, Alashkar Alhamwe B, Caraballo L, Ding M, Ferrante A, Garn H, Garssen J, Hii CS, Irvine J, Llinás-Caballero K, López JF, Miethe S, Perveen K, Pogge von Strandmann E, Sokolowska M, Potaczek DP, van Esch BCAM. Acevedo N, et al. Among authors: lopez jf. Nutrients. 2021 Feb 25;13(3):724. doi: 10.3390/nu13030724. Nutrients. 2021. PMID: 33668787 Free PMC article. Review.
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, Sakamoto M, Menezes MP, Courtin T, Sherr E, Parra R, Richardson R, Roscioli T, Scala M, von Stülpnagel C, Smedley D; TMEM63B collaborators; Genomics England Research Consortium; Torella A, Tohyama J, Koichihara R, Hamada K, Ogata K, Suzuki T, Sugie A, van der Smagt JJ, van Gassen K, Valence S, Vittery E, Malone S, Kato M, Matsumoto N, Ratto GM, Guerrini R. Vetro A, et al. Am J Hum Genet. 2023 Aug 3;110(8):1356-1376. doi: 10.1016/j.ajhg.2023.06.008. Epub 2023 Jul 7. Am J Hum Genet. 2023. PMID: 37421948 Free PMC article.
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
Ibañez K, Polke J, Hagelstrom RT, Dolzhenko E, Pasko D, Thomas ERA, Daugherty LC, Kasperaviciute D, Smith KR; WGS for Neurological Diseases Group; Deans ZC, Hill S, Fowler T, Scott RH, Hardy J, Chinnery PF, Houlden H, Rendon A, Caulfield MJ, Eberle MA, Taft RJ, Tucci A; Genomics England Research Consortium. Ibañez K, et al. Lancet Neurol. 2022 Mar;21(3):234-245. doi: 10.1016/S1474-4422(21)00462-2. Lancet Neurol. 2022. PMID: 35182509 Free PMC article.
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR, Horvath R, Wei W, Calabrese C, Tucci A, Ibañez K, Ratnaike T, Pitceathly RDS, Bugiardini E, Quinlivan R, Hanna MG, Clement E, Ashton E, Sayer JA, Brennan P, Josifova D, Izatt L, Fratter C, Nesbitt V, Barrett T, McMullen DJ, Smith A, Deshpande C, Smithson SF, Festenstein R, Canham N, Caulfield M, Houlden H, Rahman S, Chinnery PF; Genomics England Research Consortium. Schon KR, et al. BMJ. 2021 Nov 3;375:e066288. doi: 10.1136/bmj-2021-066288. BMJ. 2021. PMID: 34732400 Free PMC article. Clinical Trial.
Hot flushes.
Stearns V, Ullmer L, López JF, Smith Y, Isaacs C, Hayes D. Stearns V, et al. Among authors: lopez jf. Lancet. 2002 Dec 7;360(9348):1851-61. doi: 10.1016/s0140-6736(02)11774-0. Lancet. 2002. PMID: 12480376 Review.
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
Martins Custodio H, Clayton LM, Bellampalli R, Pagni S, Silvennoinen K, Caswell R; Genomics England Research Consortium; Brunklaus A, Guerrini R, Koeleman BPC, Lemke JR, Møller RS, Scheffer IE, Weckhuysen S, Zara F, Zuberi S, Kuchenbaecker K, Balestrini S, Mills JD, Sisodiya SM. Martins Custodio H, et al. Brain. 2023 Sep 1;146(9):3885-3897. doi: 10.1093/brain/awad111. Brain. 2023. PMID: 37006128 Free PMC article.
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.
Zanovello M, Ibáñez K, Brown AL, Sivakumar P, Bombaci A, Santos L, van Vugt JJFA, Narzisi G, Karra R, Scholz SW, Ding J, Gibbs JR, Chiò A, Dalgard C, Weisburd B; American Genome Center (TAGC) consortium, Genomics England Research Consortium, Project MinE ALS Sequencing Consortium, The NYGC ALS Consortium; Hanna MG, Greensmith L, Phatnani H, Veldink JH, Traynor BJ, Polke J, Houlden H, Fratta P, Tucci A. Zanovello M, et al. Brain. 2023 Jul 3;146(7):2723-2729. doi: 10.1093/brain/awad050. Brain. 2023. PMID: 36797998 Free PMC article.
Mechanisms and biomarkers of successful allergen-specific immunotherapy.
López JF, Bel Imam M, Satitsuksanoa P, Lems S, Yang M, Hwang YK, Losol P, Choi JP, Kim SH, Chang YS, Akdis M, Akdis CA, van de Veen W. López JF, et al. Asia Pac Allergy. 2022 Oct 31;12(4):e45. doi: 10.5415/apallergy.2022.12.e45. eCollection 2022 Oct. Asia Pac Allergy. 2022. PMID: 36452016 Free PMC article. Review.
194 results