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

Year Number of Results
1981 1
1982 1
1983 1
1984 1
1985 1
1986 1
1987 2
1988 4
1989 3
1990 3
1991 3
1992 4
1993 4
1994 3
1995 1
1996 1
1998 4
2000 1
2001 1
2002 2
2004 7
2005 4
2006 6
2008 1
2009 2
2010 7
2011 6
2012 3
2013 5
2014 5
2015 4
2016 2
2017 3
2018 5
2019 1
2020 3
2021 9
2022 7
2023 9
2024 8
2025 11

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136 results

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Page 1
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
Gunay-Aygun M, Tuchman M, Font-Montgomery E, Lukose L, Edwards H, Garcia A, Ausavarat S, Ziegler SG, Piwnica-Worms K, Bryant J, Bernardini I, Fischer R, Huizing M, Guay-Woodford L, Gahl WA. Gunay-Aygun M, et al. Among authors: bernardini i. Mol Genet Metab. 2010 Feb;99(2):160-73. doi: 10.1016/j.ymgme.2009.10.010. Epub 2009 Oct 20. Mol Genet Metab. 2010. PMID: 19914852 Free PMC article.
Real-World Impact of Olaparib Exposure in Advanced Pancreatic Cancer Patients Harboring Germline BRCA1-2 Pathogenic Variants.
Milella M, Orsi G, di Marco M, Salvatore L, Procaccio L, Noventa S, Bozzarelli S, Garajova I, Vasile E, Giordano G, Macchini M, Cavaliere A, Gaule M, Bergamo F, Chiaravalli M, Palloni A, Carloni R, Bittoni A, Niger M, Rapposelli IG, Rodriquenz MG, Scartozzi M, Mosconi S, Giommoni E, Bernardini I, Paratore C, Spallanzani A, Bencardino K, Forti L, Tamburini E, Lonardi S, Scarpa A, Cascinu S, Tortora G, Sperduti I, Reni M. Milella M, et al. Among authors: bernardini i. Cancer Med. 2025 Feb;14(3):e70364. doi: 10.1002/cam4.70364. Cancer Med. 2025. PMID: 39861955 Free PMC article.
Natural history of alkaptonuria.
Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, Anderson PD, Huizing M, Anikster Y, Gerber LH, Gahl WA. Phornphutkul C, et al. Among authors: bernardini i. N Engl J Med. 2002 Dec 26;347(26):2111-21. doi: 10.1056/NEJMoa021736. N Engl J Med. 2002. PMID: 12501223 Free article.
Human neuroinvasive Toscana virus infections in Italy from 2016 to 2023: Increased incidence in 2022 and 2023.
Fotakis EA, Di Maggio E, Del Manso M, Mateo-Urdiales A, Petrone D, Fabiani M, Perego G, Bella A, Bongiorno G, Bernardini I, Di Luca M, Venturi G, Fortuna C, Giannitelli S, Ferraro F, Maraglino F, Pezzotti P, Palamara AT, Riccardo F; Italian Arbovirus Surveillance network. Fotakis EA, et al. Among authors: bernardini i. Euro Surveill. 2025 Jan;30(2):2400203. doi: 10.2807/1560-7917.ES.2025.30.2.2400203. Euro Surveill. 2025. PMID: 39819339 Free PMC article.
Persistent hypermethioninaemia with dominant inheritance.
Blom HJ, Davidson AJ, Finkelstein JD, Luder AS, Bernardini I, Martin JJ, Tangerman A, Trijbels JM, Mudd SH, Goodman SI, et al. Blom HJ, et al. Among authors: bernardini i. J Inherit Metab Dis. 1992;15(2):188-97. doi: 10.1007/BF01799629. J Inherit Metab Dis. 1992. PMID: 1527987
Second-line therapy in pancreatic ductal adenocarcinoma (PDAC) patients with germline BRCA1-2 pathogenic variants (gBRCA1-2pv).
Orsi G, Cavaliere A, Tortora G, Lonardi S, Macchini M, Di Marco M, Giordano G, Vasile E, Scartozzi M, Bozzarelli S, Noventa S, Rodriquenz MG, Militello AM, Rapposelli IG, Garajova I, De Lorenzo S, Merelli B, Bittoni A, Salvatore L, Procaccio L, Paratore C, Spallanzani A, Peretti U, Niger M, Giommoni E, Bernardini I, Tamburini E, Bernardino K, Forti L, Valente MM, Cascinu S, Milella M, Reni M. Orsi G, et al. Among authors: bernardini i. Br J Cancer. 2023 Mar;128(5):877-885. doi: 10.1038/s41416-022-02086-w. Epub 2022 Dec 8. Br J Cancer. 2023. PMID: 36482190 Free PMC article.
Distal vacuolar myopathy in nephropathic cystinosis.
Charnas LR, Luciano CA, Dalakas M, Gilliatt RW, Bernardini I, Ishak K, Cwik VA, Fraker D, Brushart TA, Gahl WA. Charnas LR, et al. Among authors: bernardini i. Ann Neurol. 1994 Feb;35(2):181-8. doi: 10.1002/ana.410350209. Ann Neurol. 1994. PMID: 8109899
136 results