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

Year Number of Results
2007 1
2009 2
2010 1
2011 5
2012 3
2013 7
2014 10
2015 6
2016 4
2017 2
2018 1
2019 6
2020 6
2021 4
2022 4
2023 2
2024 1

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58 results

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Page 1
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Usmani MA, Ahmed ZM, Magini P, Pienkowski VM, Rasmussen KJ, Hernan R, Rasheed F, Hussain M, Shahzad M, Lanpher BC, Niu Z, Lim FY, Pippucci T, Ploski R, Kraus V, Matuszewska K, Palombo F, Kianmahd J; UCLA Clinical Genomics Center; Martinez-Agosto JA, Lee H, Colao E, Motazacker MM, Brigatti KW, Puffenberger EG, Riazuddin SA, Gonzaga-Jauregui C, Chung WK, Wagner M, Schultz MJ, Seri M, Kievit AJA, Perrotti N, Wassink-Ruiter JSK, van Bokhoven H, Riazuddin S, Riazuddin S. Usmani MA, et al. Among authors: magini p. Am J Hum Genet. 2021 Jul 1;108(7):1330-1341. doi: 10.1016/j.ajhg.2021.05.007. Epub 2021 Jun 7. Am J Hum Genet. 2021. PMID: 34102099 Free PMC article.
Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.
Magini P, Palombo F, Boito S, Lanzoni G, Mongelli P, Rizzuti T, Baccarin M, Pippucci T, Seri M, Lalatta F. Magini P, et al. Am J Med Genet A. 2016 Dec;170(12):3258-3264. doi: 10.1002/ajmg.a.37873. Epub 2016 Sep 9. Am J Med Genet A. 2016. PMID: 27612164
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: magini p. Haematologica. 2023 Jul 1;108(7):1909-1919. doi: 10.3324/haematol.2022.280993. Haematologica. 2023. PMID: 36519321 Free PMC article.
Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association.
Pelleri MC, Locatelli C, Mattina T, Bonaglia MC, Piazza F, Magini P, Antonaros F, Ramacieri G, Vione B, Vitale L, Seri M, Strippoli P, Cocchi G, Piovesan A, Caracausi M. Pelleri MC, et al. Among authors: magini p. BMC Med Genomics. 2022 Dec 21;15(1):266. doi: 10.1186/s12920-022-01422-6. BMC Med Genomics. 2022. PMID: 36544206 Free PMC article.
Characterization of BRCA Deficiency in Ovarian Cancer.
Barbero G, Zuntini R, Magini P, Desiderio L, Bonaguro M, Perrone AM, Rubino D, Grippa M, De Leo A, Ceccarelli C, Godino L, Miccoli S, Ferrari S, Santini D, De Iaco P, Zamagni C, Innella G, Turchetti D. Barbero G, et al. Among authors: magini p. Cancers (Basel). 2023 Feb 28;15(5):1530. doi: 10.3390/cancers15051530. Cancers (Basel). 2023. PMID: 36900320 Free PMC article.
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.
Rinaldi B, Vaisfeld A, Amarri S, Baldo C, Gobbi G, Magini P, Melli E, Neri G, Novara F, Pippucci T, Rizzi R, Soresina A, Zampini L, Zuffardi O, Crimi M. Rinaldi B, et al. Among authors: magini p. Orphanet J Rare Dis. 2017 Apr 11;12(1):69. doi: 10.1186/s13023-017-0606-4. Orphanet J Rare Dis. 2017. PMID: 28399932 Free PMC article. Review.
Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism.
Panza E, Martinelli D, Magini P, Dionisi Vici C, Seri M. Panza E, et al. Among authors: magini p. Front Neurol. 2019 Feb 22;10:131. doi: 10.3389/fneur.2019.00131. eCollection 2019. Front Neurol. 2019. PMID: 30853934 Free PMC article. Review.
ANKRD26-related thrombocytopenia and myeloid malignancies.
Noris P, Favier R, Alessi MC, Geddis AE, Kunishima S, Heller PG, Giordano P, Niederhoffer KY, Bussel JB, Podda GM, Vianelli N, Kersseboom R, Pecci A, Gnan C, Marconi C, Auvrignon A, Cohen W, Yu JC, Iguchi A, Miller Imahiyerobo A, Boehlen F, Ghalloussi D, De Rocco D, Magini P, Civaschi E, Biino G, Seri M, Savoia A, Balduini CL. Noris P, et al. Among authors: magini p. Blood. 2013 Sep 12;122(11):1987-9. doi: 10.1182/blood-2013-04-499319. Blood. 2013. PMID: 24030261 Free article. No abstract available.
58 results