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

Year Number of Results
2003 1
2006 4
2007 4
2008 1
2009 1
2010 4
2011 6
2012 5
2013 5
2014 10
2015 8
2016 8
2017 8
2018 8
2019 22
2020 25
2021 14
2022 17
2023 12
2024 2

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139 results

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Page 1
Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Cetica V, Pisano T, Lesca G, Marafi D, Licchetta L, Riccardi F, Mei D, Chung HB, Bayat A, Balasubramanian M, Lowenstein DH, Endzinienė M, Alotaibi M, Villeneuve N, Jacobs J, Isidor B, Solazzi R, den Hollander NS, Marjanovic D, Rougeot-Jung C, Jung J, Lesieur-Sebellin M, Accogli A, Salpietro V, Saadi NW, Panagiotakaki E, Foiadelli T, Redon S, Tsai MH, Bisulli F, Hammer TB, Lupski JR, Parrini E, Guerrini R; YWHAG Study Group. Cetica V, et al. Epilepsia. 2024 Mar 16. doi: 10.1111/epi.17939. Online ahead of print. Epilepsia. 2024. PMID: 38491959
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
Pulmonary Tuberculosis in Children: A Forgotten Disease?
Pelosi U, Pintus R, Savasta S, Fanos V. Pelosi U, et al. Among authors: savasta s. Microorganisms. 2023 Jun 30;11(7):1722. doi: 10.3390/microorganisms11071722. Microorganisms. 2023. PMID: 37512894 Free PMC article. Review.
Children under 6 years with acute headache in Pediatric Emergency Departments. A 2-year retrospective exploratory multicenter Italian study.
Raucci U, Parisi P, Ferro V, Margani E, Vanacore N, Raieli V, Bondone C, Calistri L, Suppiej A, Palmieri A, Cordelli DM, Savasta S, Papa A, Verrotti A, Orsini A, D'Alonzo R, Pavone P, Falsaperla R, Velardita M, Nacca R, Papetti L, Rossi R, Gioè D, Malaventura C, Drago F, Morreale C, Rossi L, Foiadelli T, Monticone S, Mazzocchetti C, Bonuccelli A, Greco F, Marino S, Monte G, Versace A, Masi S, Di Nardo G, Reale A, Villani A, Valeriani M. Raucci U, et al. Among authors: savasta s. Cephalalgia. 2023 Jun;43(6):3331024231164361. doi: 10.1177/03331024231164361. Cephalalgia. 2023. PMID: 37345616 Free article.
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Leone MP, Morlino S, Nardella G, Pracella R, Giachino D, Celli L, Baldo D, Turolla L, Piccione M, Salzano E, Busè M, Lastella P, Zollino M, Cantone R, Grosso E, Zonta A, Pasini B, Piscopo C, De Maggio I, Priolo M, Mammi C, Foiadelli T, Trabatti C, Savasta S, Iolascon A, Ferraris A, Lodato V, Di Giosaffatte N, Majore S, Selicorni A, Petracca A, Fusco C, Celli M, Guarnieri V, Micale L, Castori M. Leone MP, et al. Among authors: savasta s. Hum Genet. 2023 Jun;142(6):785-808. doi: 10.1007/s00439-023-02547-z. Epub 2023 Apr 20. Hum Genet. 2023. PMID: 37079061
Treatment Dilemma in Children with Late-Onset Pompe Disease.
Faraguna MC, Crescitelli V, Fornari A, Barzaghi S, Savasta S, Foiadelli T, Veraldi D, Paoletti M, Pichiecchio A, Gasperini S. Faraguna MC, et al. Among authors: savasta s. Genes (Basel). 2023 Jan 30;14(2):362. doi: 10.3390/genes14020362. Genes (Basel). 2023. PMID: 36833288 Free PMC article.
139 results