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

Year Number of Results
2006 2
2007 2
2008 2
2009 4
2010 4
2011 3
2012 1
2013 1
2014 2
2015 1
2016 1
2017 1
2018 3
2019 3
2021 2
2022 3
2023 2
2024 1

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31 results

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Page 1
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.
Bottega R, Marzollo A, Marinoni M, Athanasakis E, Persico I, Bianco AM, Faleschini M, Valencic E, Simoncini D, Rossini L, Corsolini F, La Bianca M, Robustelli G, Gabelli M, Agosti M, Biffi A, Grotto P, Bozzi V, Noris P, Burlina AB, D'Adamo AP, Tommasini A, Faletra F, Pastore A, Savoia A. Bottega R, et al. Among authors: bozzi v. Haematologica. 2022 Mar 1;107(3):750-754. doi: 10.3324/haematol.2021.279689. Haematologica. 2022. PMID: 34788986 Free PMC article. No abstract available.
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia.
Marconi C, Di Buduo CA, LeVine K, Barozzi S, Faleschini M, Bozzi V, Palombo F, McKinstry S, Lassandro G, Giordano P, Noris P, Balduini CL, Savoia A, Balduini A, Pippucci T, Seri M, Katsanis N, Pecci A. Marconi C, et al. Among authors: bozzi v. Blood. 2019 Mar 21;133(12):1346-1357. doi: 10.1182/blood-2018-07-859496. Epub 2018 Dec 27. Blood. 2019. PMID: 30591527 Free article.
Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene.
Marzollo A, Zampieri S, Barozzi S, Yousaf MA, Quartararo J, De Rocco D, Faleschini M, Marconi C, Berti CC, Bozzi V, Russo G, Giordano P, Goffrini P, Bresolin S, Pastore A, Savoia A, Pecci A. Marzollo A, et al. Among authors: bozzi v. Br J Haematol. 2024 May 30. doi: 10.1111/bjh.19567. Online ahead of print. Br J Haematol. 2024. PMID: 38815995
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.
Marconi C, Pecci A, Palombo F, Melazzini F, Bottega R, Nardi E, Bozzi V, Faleschini M, Barozzi S, Giangregorio T, Magini P, Balduini CL, Savoia A, Seri M, Noris P, Pippucci T. Marconi C, et al. Among authors: bozzi v. Haematologica. 2023 Jul 1;108(7):1909-1919. doi: 10.3324/haematol.2022.280993. Haematologica. 2023. PMID: 36519321 Free PMC article.
31 results