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

Year Number of Results
2007 1
2009 3
2010 2
2013 1
2014 1
2015 1
2017 1
2018 2
2019 1
2021 2
2023 5
2024 2

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18 results

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Page 1
GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia.
Pession A, Di Rocco M, Venturelli F, Tappino B, Morello W, Santoro N, Giordano P, Filippini B, Rinieri S, Russo G, Girardi K, Ruggiero A, Galea E, Antonucci R, Tovaglieri N, Porta F, Tartaglione I, Giona F, Fagioli F, Burlina A; Pediatric Gaucher Study Group. Pession A, et al. Among authors: tappino b. Orphanet J Rare Dis. 2023 Jun 16;18(1):151. doi: 10.1186/s13023-023-02760-z. Orphanet J Rare Dis. 2023. PMID: 37328863 Free PMC article.
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.
Ognibene M, Scala M, Iacomino M, Schiavetti I, Madia F, Traverso M, Guerrisi S, Di Duca M, Caroli F, Baldassari S, Tappino B, Romano F, Uva P, Vozzi D, Chelleri C, Piatelli G, Diana MC, Zara F, Capra V, Pavanello M, De Marco P. Ognibene M, et al. Among authors: tappino b. Cancers (Basel). 2023 Mar 22;15(6):1916. doi: 10.3390/cancers15061916. Cancers (Basel). 2023. PMID: 36980803 Free PMC article.
Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia.
Motta I, Consonni D, Stroppiano M, Benedetto C, Cassinerio E, Tappino B, Ranalli P, Borin L, Facchini L, Patriarca A, Barcellini W, Lanza F, Filocamo M, Cappellini MD; Splenomegaly Gaucher group. Motta I, et al. Among authors: tappino b. Sci Rep. 2021 Jan 28;11(1):2594. doi: 10.1038/s41598-021-82296-z. Sci Rep. 2021. PMID: 33510429 Free PMC article. Clinical Trial.
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.
Velho RV, Harms FL, Danyukova T, Ludwig NF, Friez MJ, Cathey SS, Filocamo M, Tappino B, Güneş N, Tüysüz B, Tylee KL, Brammeier KL, Heptinstall L, Oussoren E, van der Ploeg AT, Petersen C, Alves S, Saavedra GD, Schwartz IV, Muschol N, Kutsche K, Pohl S. Velho RV, et al. Among authors: tappino b. Hum Mutat. 2019 Jul;40(7):842-864. doi: 10.1002/humu.23748. Epub 2019 Apr 13. Hum Mutat. 2019. PMID: 30882951
18 results