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

Year Number of Results
2002 1
2004 2
2005 1
2006 2
2007 3
2008 1
2009 2
2010 1
2011 2
2012 1
2013 1
2014 1
2015 2
2016 1
2018 1
2019 1
2020 2
2021 5
2023 1
2024 0

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27 results

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Page 1
The Prevalence of Clinical Features in Patients with Aarskog-Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review.
Zanetti Drumond V, Sousa Salgado L, Sousa Salgado C, Oliveira VAL, de Assis EM, Campos Ribeiro M, Furtado Valadão A, Orrico A. Zanetti Drumond V, et al. Among authors: orrico a. Genet Res (Camb). 2021 Feb 2;2021:6652957. doi: 10.1155/2021/6652957. eCollection 2021. Genet Res (Camb). 2021. PMID: 33762894 Free PMC article. Review.
PEDIA: prioritization of exome data by image analysis.
Hsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, Daschkey S, Eden HD, Devriendt K, Wilson S, Douzgou S, Đukić D, Ehmke N, Fauth C, Fischer-Zirnsak B, Fleischer N, Gabriel H, Graul-Neumann L, Gripp KW, Gurovich Y, Gusina A, Haddad N, Hajjir N, Hanani Y, Hertzberg J, Hoertnagel K, Howell J, Ivanovski I, Kaindl A, Kamphans T, Kamphausen S, Karimov C, Kathom H, Keryan A, Knaus A, Köhler S, Kornak U, Lavrov A, Leitheiser M, Lyon GJ, Mangold E, Reina PM, Carrascal AM, Mitter D, Herrador LM, Nadav G, Nöthen M, Orrico A, Ott CE, Park K, Peterlin B, Pölsler L, Raas-Rothschild A, Randolph L, Revencu N, Fagerberg CR, Robinson PN, Rosnev S, Rudnik S, Rudolf G, Schatz U, Schossig A, Schubach M, Shanoon O, Sheridan E, Smirin-Yosef P, Spielmann M, Suk EK, Sznajer Y, Thiel CT, Thiel G, Verloes A, Vrecar I, Wahl D, Weber I, Winter K, Wiśniewska M, Wollnik B, Yeung MW, Zhao M, Zhu N, Zschocke J, Mundlos S, Horn D, Krawitz PM. Hsieh TC, et al. Among authors: orrico a. Genet Med. 2019 Dec;21(12):2807-2814. doi: 10.1038/s41436-019-0566-2. Epub 2019 Jun 5. Genet Med. 2019. PMID: 31164752 Free PMC article.
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes.
Doddato G, Valentino F, Giliberti A, Papa FT, Tita R, Bruno LP, Resciniti S, Fallerini C, Benetti E, Palmieri M, Mencarelli MA, Fabbiani A, Bruttini M, Orrico A, Baldassarri M, Fava F, Lopergolo D, Lo Rizzo C, Lamacchia V, Mannucci S, Pinto AM, Curr A, Mancini V; Oncologic Multidisciplinary Team, Azienda Ospedaliera Universitaria Senese; Oncologic Multidisciplinary Team, Azienda Usl Toscana Sud Est; Mari F, Renieri A, Ariani F. Doddato G, et al. Among authors: orrico a. Front Oncol. 2021 May 7;11:649435. doi: 10.3389/fonc.2021.649435. eCollection 2021. Front Oncol. 2021. PMID: 34026625 Free PMC article.
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes.
Doddato G, Valentino F, Giliberti A, Papa FT, Tita R, Bruno LP, Resciniti S, Fallerini C, Benetti E, Palmieri M, Mencarelli MA, Fabbiani A, Bruttini M, Orrico A, Baldassarri M, Fava F, Lopergolo D, Rizzo CL, Lamacchia V, Mannucci S, Pinto AM, Currò A, Mancini V; Oncologic Multidisciplinary Team; Azienda Ospedaliera Universitaria Senese; Oncologic Multidisciplinary Team; Azienda Usl Toscana Sud Est; Mari F, Renieri A, Ariani F. Doddato G, et al. Among authors: orrico a. Front Oncol. 2021 Aug 17;11:740860. doi: 10.3389/fonc.2021.740860. eCollection 2021. Front Oncol. 2021. PMID: 34485163 Free PMC article.
Case report: The CCDC103 variant causes ultrastructural sperm axonemal defects and total sperm immotility in a professional athlete without primary ciliary diskinesia.
Luongo FP, Luddi A, Ponchia R, Ferrante R, Di Rado S, Paccagnini E, Gentile M, Lupetti P, Guazzo R, Orrico A, Stuppia L, Piomboni P. Luongo FP, et al. Among authors: orrico a. Front Genet. 2023 Jan 26;14:1062326. doi: 10.3389/fgene.2023.1062326. eCollection 2023. Front Genet. 2023. PMID: 36777727 Free PMC article.
Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature.
Cinque L, Angeletti C, Orrico A, Castellana S, Ferrito L, Ciuoli C, Mazza T, Castori M, Guarnieri V. Cinque L, et al. Among authors: orrico a. Biomedicines. 2020 Dec 19;8(12):631. doi: 10.3390/biomedicines8120631. Biomedicines. 2020. PMID: 33352647 Free PMC article.
27 results