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

Year Number of Results
2008 1
2009 1
2010 1
2012 2
2013 1
2014 3
2015 2
2016 5
2017 1
2018 1
2019 2
2020 3
2021 2
2023 1
2024 0

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24 results

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Page 1
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
Rodger C, Flex E, Allison RJ, Sanchis-Juan A, Hasenahuer MA, Cecchetti S, French CE, Edgar JR, Carpentieri G, Ciolfi A, Pantaleoni F, Bruselles A; Genomics England Research Consortium; Onesimo R, Zampino G, Marcon F, Siniscalchi E, Lees M, Krishnakumar D, McCann E, Yosifova D, Jarvis J, Kruer MC, Marks W, Campbell J, Allen LE, Gustincich S, Raymond FL, Tartaglia M, Reid E. Rodger C, et al. Am J Hum Genet. 2020 Dec 3;107(6):1129-1148. doi: 10.1016/j.ajhg.2020.10.012. Epub 2020 Nov 12. Am J Hum Genet. 2020. PMID: 33186545 Free PMC article.
Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration.
Muto V, Flex E, Kupchinsky Z, Primiano G, Galehdari H, Dehghani M, Cecchetti S, Carpentieri G, Rizza T, Mazaheri N, Sedaghat A, Vahidi Mehrjardi MY, Traversa A, Di Nottia M, Kousi MM, Jamshidi Y, Ciolfi A, Caputo V, Malamiri RA, Pantaleoni F, Martinelli S, Jeffries AR, Zeighami J, Sherafat A, Di Giuda D, Shariati GR, Carrozzo R, Katsanis N, Maroofian R, Servidei S, Tartaglia M. Muto V, et al. Neurology. 2018 Jul 24;91(4):e319-e330. doi: 10.1212/WNL.0000000000005869. Epub 2018 Jun 29. Neurology. 2018. PMID: 29959261 Free PMC article.
Discovery of a Selective Series of Inhibitors of Plasmodium falciparum HDACs.
Ontoria JM, Paonessa G, Ponzi S, Ferrigno F, Nizi E, Biancofiore I, Malancona S, Graziani R, Roberts D, Willis P, Bresciani A, Gennari N, Cecchetti O, Monteagudo E, Orsale MV, Veneziano M, Di Marco A, Cellucci A, Laufer R, Altamura S, Summa V, Harper S. Ontoria JM, et al. ACS Med Chem Lett. 2016 Mar 5;7(5):454-9. doi: 10.1021/acsmedchemlett.5b00468. eCollection 2016 May 12. ACS Med Chem Lett. 2016. PMID: 27190592 Free PMC article.
Covid-19 And Rheumatic Autoimmune Systemic Diseases: Role of Pre-Existing Lung Involvement and Ongoing Treatments.
Ferri C, Giuggioli D, Raimondo V, L'Andolina M, Dagna L, Tavoni A, Caso F, Ursini F, Ruscitti P, Caminiti M, Foti R, Riccieri V, Guiducci S, Pellegrini R, Zanatta E, Varcasia G, Olivo D, Gigliotti P, Cuomo G, Murdaca G, Cecchetti R, De Angelis R, Romeo N, Ingegnoli F, Cozzi F, Codullo V, Cavazzana I, Colaci M, Abignano G, De Santis M, Lubrano E, Fusaro E, Rossa AD, Spinella A, Lumetti F, De Luca G, Bellando-Randone S, Visalli E, Dal Bosco Y, Amato G, Giannini D, Bilia S, Masini F, Pellegrino G, Pigatto E, Generali E, Mariano GP, Pettiti G, Zanframundo G, Brittelli R, Aiello V, Caminiti R, Scorpiniti D, Ferrari T, Campochiaro C, Brusi V, Fredi M, Moschetti L, Cacciapaglia F, Gragnani L, Monti M, Lorini S, Paparo SR, Ragusa F, Mazzi V, Elia G, Ferrari SM, Di Cola I, Vadacca M, Lorusso S, Barsotti S, Aprile ML, Marco T, Miccoli M, Bosello S, Matucci-Cerinic M, D'Angelo S, Doria A, Franceschini F, Meliconi R, Iannone F, Giacomelli R, Zignego AL, Fallahi P, Antonelli A. Ferri C, et al. Curr Pharm Des. 2021;27(41):4245-4252. doi: 10.2174/1381612827666210903103935. Curr Pharm Des. 2021. PMID: 34477509
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.
Capri Y, Flex E, Krumbach OHF, Carpentieri G, Cecchetti S, Lißewski C, Rezaei Adariani S, Schanze D, Brinkmann J, Piard J, Pantaleoni F, Lepri FR, Goh ES, Chong K, Stieglitz E, Meyer J, Kuechler A, Bramswig NC, Sacharow S, Strullu M, Vial Y, Vignal C, Kensah G, Cuturilo G, Kazemein Jasemi NS, Dvorsky R, Monaghan KG, Vincent LM, Cavé H, Verloes A, Ahmadian MR, Tartaglia M, Zenker M. Capri Y, et al. Am J Hum Genet. 2019 Jun 6;104(6):1223-1232. doi: 10.1016/j.ajhg.2019.04.013. Epub 2019 May 23. Am J Hum Genet. 2019. PMID: 31130282 Free PMC article.
Acute toxic exposures in children: analysis of a three year registry managed by a Pediatric poison control Center in Italy.
Marano M, Rossi F, Ravà L, Khalil Ramla M, Pisani M, Bottari G, Genuini L, Zampini G, Nunziata J, Reale A, Barbieri MA, Celeani F, Di Nardo M, Cecchetti C, Stoppa F, Villani A, Raponi M, Livadiotti S, Pontrelli G. Marano M, et al. Ital J Pediatr. 2021 Jun 2;47(1):125. doi: 10.1186/s13052-021-01071-y. Ital J Pediatr. 2021. PMID: 34078407 Free PMC article.
24 results