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

Year Number of Results
2002 2
2004 1
2005 2
2007 3
2009 3
2010 2
2011 4
2012 3
2013 2
2014 11
2015 11
2016 9
2017 13
2018 6
2019 7
2020 14
2021 14
2022 9
2023 7
2024 0

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107 results

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Page 1
Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of Speech.
Formicola D, Podda I, Pantaleo M, Andreucci E, Lopergolo D, Giglio S, Santorelli FM, Chilosi A. Formicola D, et al. Among authors: giglio s. Neuropediatrics. 2023 Dec;54(6):407-411. doi: 10.1055/s-0043-1771033. Epub 2023 Aug 7. Neuropediatrics. 2023. PMID: 37549685
Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
Saettini F, Guerra F, Fazio G, Bugarin C, McMillan HJ, Ohtake A, Ardissone A, Itoh M, Giglio S, Cappuccio G, Giardino G, Romano R, Quadri M, Gasperini S, Moratto D, Chiarini M, Akira I, Fukuhara Y, Hayakawa I, Okazaki Y, Mauri M, Piazza R, Cazzaniga G, Biondi A. Saettini F, et al. Among authors: giglio s. J Clin Immunol. 2023 Nov;43(8):2115-2125. doi: 10.1007/s10875-023-01584-7. Epub 2023 Sep 28. J Clin Immunol. 2023. PMID: 37770806
A review of the main genetic factors influencing the course of COVID-19 in Sardinia: the role of human leukocyte antigen-G.
Mocci S, Littera R, Chessa L, Campagna M, Melis M, Ottelio CM, Piras IS, Lai S, Firinu D, Tranquilli S, Mascia A, Vacca M, Schirru D, Lecca LI, Rassu S, Cannas F, Sanna C, Carta MG, Sedda F, Giuressi E, Cipri S, Miglianti M, Perra A, Giglio S. Mocci S, et al. Among authors: giglio s. Front Immunol. 2023 Jun 5;14:1138559. doi: 10.3389/fimmu.2023.1138559. eCollection 2023. Front Immunol. 2023. PMID: 37342325 Free PMC article. Review.
SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome.
Fiorentini E, Giunti L, Di Rita A, Peraio S, Fonte C, Caporalini C, Buccoliero AM, Censullo ML, Gori G, Noris A, Pasquariello R, Battini R, Pavone R, Giordano F, Giglio S, Rinaldi B. Fiorentini E, et al. Among authors: giglio s. Eur J Med Genet. 2023 Jul;66(7):104784. doi: 10.1016/j.ejmg.2023.104784. Epub 2023 May 8. Eur J Med Genet. 2023. PMID: 37164167 Free article.
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes.
Schöpflin R, Melo US, Moeinzadeh H, Heller D, Laupert V, Hertzberg J, Holtgrewe M, Alavi N, Klever MK, Jungnitsch J, Comak E, Türkmen S, Horn D, Duffourd Y, Faivre L, Callier P, Sanlaville D, Zuffardi O, Tenconi R, Kurtas NE, Giglio S, Prager B, Latos-Bielenska A, Vogel I, Bugge M, Tommerup N, Spielmann M, Vitobello A, Kalscheuer VM, Vingron M, Mundlos S. Schöpflin R, et al. Among authors: giglio s. Nat Commun. 2022 Oct 29;13(1):6470. doi: 10.1038/s41467-022-34053-7. Nat Commun. 2022. PMID: 36309531 Free PMC article.
Genetic counseling during COVID-19 pandemic: Tuscany experience.
Pagliazzi A, Mancano G, Forzano G, di Giovanni F, Gori G, Traficante G, Iolascon A, Giglio S. Pagliazzi A, et al. Among authors: giglio s. Mol Genet Genomic Med. 2020 Oct;8(10):e1433. doi: 10.1002/mgg3.1433. Epub 2020 Aug 3. Mol Genet Genomic Med. 2020. PMID: 32743952 Free PMC article.
107 results