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Results by year

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

Year Number of Results
1951 1
1966 1
1972 1
1973 2
1975 4
1976 1
1977 1
1978 1
1979 2
1980 1
1981 4
1982 5
1983 1
1984 5
1985 12
1986 5
1987 5
1988 6
1989 4
1990 9
1991 6
1992 10
1993 4
1994 4
1995 5
1996 8
1997 5
1998 10
1999 1
2000 7
2001 7
2002 5
2003 12
2004 13
2005 12
2006 12
2007 7
2008 8
2009 5
2010 10
2011 25
2012 21
2013 25
2014 24
2015 21
2016 30
2017 31
2018 42
2019 38
2020 39
2021 41
2022 33
2023 42
2024 6

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Search Results

615 results

Results by year

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Page 1
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.
Houdayer C, Caux-Moncoutier V, Krieger S, Barrois M, Bonnet F, Bourdon V, Bronner M, Buisson M, Coulet F, Gaildrat P, Lefol C, Léone M, Mazoyer S, Muller D, Remenieras A, Révillion F, Rouleau E, Sokolowska J, Vert JP, Lidereau R, Soubrier F, Sobol H, Sevenet N, Bressac-de Paillerets B, Hardouin A, Tosi M, Sinilnikova OM, Stoppa-Lyonnet D. Houdayer C, et al. Among authors: tosi m. Hum Mutat. 2012 Aug;33(8):1228-38. doi: 10.1002/humu.22101. Epub 2012 May 11. Hum Mutat. 2012. PMID: 22505045
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A. Cunha P, et al. Among authors: tosi m. Am J Hum Genet. 2023 Jul 6;110(7):1098-1109. doi: 10.1016/j.ajhg.2023.05.009. Epub 2023 Jun 9. Am J Hum Genet. 2023. PMID: 37301203 Free PMC article.
Monitored anesthesia care.
Ghisi D, Fanelli A, Tosi M, Nuzzi M, Fanelli G. Ghisi D, et al. Among authors: tosi m. Minerva Anestesiol. 2005 Sep;71(9):533-8. Minerva Anestesiol. 2005. PMID: 16166913 Free article. Review.
Fetal lateral neck cysts.
Amadori R, Stampini V, De Pedrini A, Ribaldone R, Tosi M, Tinelli R, Surico D. Amadori R, et al. Among authors: tosi m. Minerva Ginecol. 2020 Jun;72(3):181-184. doi: 10.23736/S0026-4784.20.04516-5. Epub 2020 Apr 21. Minerva Ginecol. 2020. PMID: 32315127 No abstract available.
Possible role of tryptophan metabolism along the microbiota-gut-brain axis on cognitive & behavioral aspects in Phenylketonuria.
Parolisi S, Montanari C, Borghi E, Cazzorla C, Zuvadelli J, Tosi M, Barone R, Bensi G, Bonfanti C, Dionisi Vici C, Biasucci G, Burlina A, Carbone MT, Verduci E; SIMMESN Working Group for Gut Microbiota in Inborn Errors of Metabolism. Parolisi S, et al. Among authors: tosi m. Pharmacol Res. 2023 Nov;197:106952. doi: 10.1016/j.phrs.2023.106952. Epub 2023 Oct 5. Pharmacol Res. 2023. PMID: 37804926 Free article. Review.
Nusinersen mitigates neuroinflammation in severe spinal muscular atrophy patients.
Nuzzo T, Russo R, Errico F, D'Amico A, Tewelde AG, Valletta M, Hassan A, Tosi M, Panicucci C, Bruno C, Bertini E, Chambery A, Pellizzoni L, Usiello A. Nuzzo T, et al. Among authors: tosi m. Commun Med (Lond). 2023 Feb 15;3(1):28. doi: 10.1038/s43856-023-00256-2. Commun Med (Lond). 2023. PMID: 36792810 Free PMC article.
SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.
Ponard D, Gaboriaud C, Charignon D, Ghannam A, Wagenaar-Bos IGA, Roem D, López-Lera A, López-Trascasa M, Tosi M, Drouet C. Ponard D, et al. Among authors: tosi m. Hum Mutat. 2020 Jan;41(1):38-57. doi: 10.1002/humu.23917. Epub 2019 Oct 22. Hum Mutat. 2020. PMID: 31517426 Free article. Review.
Cholesteryl esters in malignancy.
Tosi MR, Tugnoli V. Tosi MR, et al. Clin Chim Acta. 2005 Sep;359(1-2):27-45. doi: 10.1016/j.cccn.2005.04.003. Clin Chim Acta. 2005. PMID: 15939411 Review.
615 results