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

Year Number of Results
1986 1
1990 2
1993 4
1994 2
1995 3
1996 2
1997 2
1998 1
1999 2
2001 2
2002 1
2005 4
2006 5
2007 10
2008 11
2009 6
2010 5
2011 3
2012 2
2013 3
2014 2
2015 2
2016 6
2017 11
2018 6
2019 27
2020 9
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Search Results

123 results
Results by year
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Page 1
Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR; University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program, Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR. Paine I, et al. Among authors: pinelli m. Am J Hum Genet. 2019 Aug 1;105(2):302-316. doi: 10.1016/j.ajhg.2019.06.001. Epub 2019 Jun 27. Am J Hum Genet. 2019. PMID: 31256877 Free PMC article.
Genetics of lipedema: new perspectives on genetic research and molecular diagnoses.
Paolacci S, Precone V, Acquaviva F, Chiurazzi P, Fulcheri E, Pinelli M, Buffelli F, Michelini S, Herbst KL, Unfer V, Bertelli M; GeneOb Project. Paolacci S, et al. Among authors: pinelli m. Eur Rev Med Pharmacol Sci. 2019 Jul;23(13):5581-5594. doi: 10.26355/eurrev_201907_18292. Eur Rev Med Pharmacol Sci. 2019. PMID: 31298310 Free article.
Dietary supplements, drugs and doping in the sport society.
Savino G, Valenti L, D'Alisera R, Pinelli M, Persi Y, Trenti T; WDPP, Working Group Doping Prevention Project. Savino G, et al. Among authors: pinelli m. Ann Ig. 2019 Nov-Dec;31(6):548-555. doi: 10.7416/ai.2019.2315. Ann Ig. 2019. PMID: 31616899 Free article.
Sphingolipid Metabolism Perturbations in Rett Syndrome.
Cappuccio G, Donti T, Pinelli M, Bernardo P, Bravaccio C, Elsea SH, Brunetti-Pierri N. Cappuccio G, et al. Among authors: pinelli m. Metabolites. 2019 Oct 10;9(10):221. doi: 10.3390/metabo9100221. Metabolites. 2019. PMID: 31658741 Free PMC article.
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
Astrea G, Romano A, Angelini C, Antozzi CG, Barresi R, Battini R, Battisti C, Bertini E, Bruno C, Cassandrini D, Fanin M, Fattori F, Fiorillo C, Guerrini R, Maggi L, Mercuri E, Morani F, Mora M, Moro F, Pezzini I, Picillo E, Pinelli M, Politano L, Rubegni A, Sanseverino W, Savarese M, Striano P, Torella A, Trevisan CP, Trovato R, Zaraieva I, Muntoni F, Nigro V, D'Amico A, Santorelli FM; Italian CMD Network. Astrea G, et al. Among authors: pinelli m. Orphanet J Rare Dis. 2018 Sep 26;13(1):170. doi: 10.1186/s13023-018-0863-x. Orphanet J Rare Dis. 2018. PMID: 30257713 Free PMC article.
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
Haijes HA, Koster MJE, Rehmann H, Li D, Hakonarson H, Cappuccio G, Hancarova M, Lehalle D, Reardon W, Schaefer GB, Lehman A, van de Laar IMBH, Tesselaar CD, Turner C, Goldenberg A, Patrier S, Thevenon J, Pinelli M, Brunetti-Pierri N, Prchalová D, Havlovicová M, Vlckova M, Sedláček Z, Lopez E, Ragoussis V, Pagnamenta AT, Kini U, Vos HR, van Es RM, van Schaik RFMA, van Essen TAJ, Kibaek M, Taylor JC, Sullivan J, Shashi V, Petrovski S, Fagerberg C, Martin DM, van Gassen KLI, Pfundt R, Falk MJ, McCormick EM, Timmers HTM, van Hasselt PM. Haijes HA, et al. Among authors: pinelli m. Am J Hum Genet. 2019 Aug 1;105(2):283-301. doi: 10.1016/j.ajhg.2019.06.016. Epub 2019 Jul 25. Am J Hum Genet. 2019. PMID: 31353023 Free PMC article.
A systems genomics approach identifies SIGLEC15 as a susceptibility factor in recurrent vulvovaginal candidiasis.
Jaeger M, Pinelli M, Borghi M, Constantini C, Dindo M, van Emst L, Puccetti M, Pariano M, Ricaño-Ponce I, Büll C, Gresnigt MS, Wang X, Gutierrez Achury J, Jacobs CWM, Xu N, Oosting M, Arts P, Joosten LAB, van de Veerdonk FL, Veltman JA, Ten Oever J, Kullberg BJ, Feng M, Adema GJ, Wijmenga C, Kumar V, Sobel J, Gilissen C, Romani L, Netea MG. Jaeger M, et al. Among authors: pinelli m. Sci Transl Med. 2019 Jun 12;11(496):eaar3558. doi: 10.1126/scitranslmed.aar3558. Sci Transl Med. 2019. PMID: 31189718
An extremely severe phenotype attributed to WDR81 nonsense mutations.
Cappuccio G, Pinelli M, Torella A, Vitiello G, D'Amico A, Alagia M, Del Giudice E, Nigro V; TUDP, Brunetti-Pierri N. Cappuccio G, et al. Among authors: pinelli m. Ann Neurol. 2017 Oct;82(4):650-651. doi: 10.1002/ana.25058. Ann Neurol. 2017. PMID: 28972664 No abstract available.
Chemical composition and roughness of enamel and composite after bleaching, acidic beverages and toothbrushing.
Pinelli MD, Catelan A, de Resende LF, Soares LE, Aguiar FH, Liporoni PC. Pinelli MD, et al. J Clin Exp Dent. 2019 Dec 1;11(12):e1175-e1180. doi: 10.4317/jced.56442. eCollection 2019 Dec. J Clin Exp Dent. 2019. PMID: 31824600 Free PMC article.
Soluble TRAIL Armed Human MSC As Gene Therapy For Pancreatic Cancer.
Spano C, Grisendi G, Golinelli G, Rossignoli F, Prapa M, Bestagno M, Candini O, Petrachi T, Recchia A, Miselli F, Rovesti G, Orsi G, Maiorana A, Manni P, Veronesi E, Piccinno MS, Murgia A, Pinelli M, Horwitz EM, Cascinu S, Conte P, Dominici M. Spano C, et al. Among authors: pinelli m. Sci Rep. 2019 Feb 11;9(1):1788. doi: 10.1038/s41598-018-37433-6. Sci Rep. 2019. PMID: 30742129 Free PMC article.
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