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

Year Number of Results
2006 50
2007 49
2008 34
2009 29
2010 41
2011 88
2012 109
2013 194
2014 214
2015 164
2016 168
2017 188
2018 230
2019 300
2020 351
2021 524
2022 451
2023 393
2024 173

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Page 1
Nonhuman primate genetic models for the study of rare diseases.
Vallender EJ, Hotchkiss CE, Lewis AD, Rogers J, Stern JA, Peterson SM, Ferguson B, Sayers K. Vallender EJ, et al. Orphanet J Rare Dis. 2023 Jan 31;18(1):20. doi: 10.1186/s13023-023-02619-3. Orphanet J Rare Dis. 2023. PMID: 36721163 Free PMC article. Review.
Pediatric joint hypermobility: a diagnostic framework and narrative review.
Tofts LJ, Simmonds J, Schwartz SB, Richheimer RM, O'Connor C, Elias E, Engelbert R, Cleary K, Tinkle BT, Kline AD, Hakim AJ, van Rossum MAJ, Pacey V. Tofts LJ, et al. Orphanet J Rare Dis. 2023 May 4;18(1):104. doi: 10.1186/s13023-023-02717-2. Orphanet J Rare Dis. 2023. PMID: 37143135 Free PMC article. Review.
ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability.
Mazzucato M, Pozza LVD, Facchin P, Angin C, Agius F, Cavero-Carbonell C, Corrochano V, Hanusova K, Kirch K, Lambert D, Lucano C, Maiella S, Panzaru M, Rusu C, Weber S, Zurriaga O, Zvolsky M, Rath A. Mazzucato M, et al. Orphanet J Rare Dis. 2023 Sep 4;18(1):267. doi: 10.1186/s13023-023-02864-6. Orphanet J Rare Dis. 2023. PMID: 37667299 Free PMC article.
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).
Geberhiwot T, Wasserstein M, Wanninayake S, Bolton SC, Dardis A, Lehman A, Lidove O, Dawson C, Giugliani R, Imrie J, Hopkin J, Green J, de Vicente Corbeira D, Madathil S, Mengel E, Ezgü F, Pettazzoni M, Sjouke B, Hollak C, Vanier MT, McGovern M, Schuchman E. Geberhiwot T, et al. Orphanet J Rare Dis. 2023 Apr 17;18(1):85. doi: 10.1186/s13023-023-02686-6. Orphanet J Rare Dis. 2023. PMID: 37069638 Free PMC article.
3,750 results