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

Year Number of Results
2007 1
2009 1
2010 1
2011 4
2012 3
2013 1
2014 1
2015 2
2016 2
2018 1
2020 3
2021 4
2022 4
2023 4
2024 2

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29 results

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Page 1
Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring.
Bonaventura E, Alberti L, Lucchi S, Cappelletti L, Fazzone S, Cattaneo E, Bellini M, Izzo G, Parazzini C, Bosetti A, Di Profio E, Fiore G, Ferrario M, Mameli C, Sangiorgio A, Masnada S, Zuccotti GV, Veggiotti P, Spaccini L, Iascone M, Verduci E, Cereda C, Tonduti D; XALD-NBS Study Group. Bonaventura E, et al. Among authors: cattaneo e. Front Neurol. 2024 Mar 6;15:1376447. doi: 10.3389/fneur.2024.1376447. eCollection 2024. Front Neurol. 2024. PMID: 38510379 Free PMC article.
Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.
Rosina E, Pezzani L, Apuril E, Pezzoli L, Marchetti D, Bellini M, Lucca C, Meossi C, Massimello M, Mariani M, Scatigno A, Cattaneo E, Colombo L, Maitz S, Cereda A, Milani D, Spaccini L, Bedeschi MF, Selicorni A, Iascone M. Rosina E, et al. Among authors: cattaneo e. Mol Genet Genomic Med. 2024 Jan;12(1):e2316. doi: 10.1002/mgg3.2316. Epub 2023 Dec 2. Mol Genet Genomic Med. 2024. PMID: 38041506 Free PMC article.
Menkes disease complicated by concurrent ACY1 deficiency: A case report.
Mauri A, Saielli LA, Alfei E, Iascone M, Marchetti D, Cattaneo E, Di Lauro A, Antonelli L, Alberti L, Bonaventura E, Veggiotti P, Spaccini L, Cereda C. Mauri A, et al. Among authors: cattaneo e. Front Genet. 2023 Mar 2;14:1077625. doi: 10.3389/fgene.2023.1077625. eCollection 2023. Front Genet. 2023. PMID: 36936426 Free PMC article.
Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring.
Bonaventura E, Alberti L, Lucchi S, Cappelletti L, Fazzone S, Cattaneo E, Bellini M, Izzo G, Parazzini C, Bosetti A, Di Profio E, Fiore G, Ferrario M, Mameli C, Sangiorgio A, Masnada S, Zuccotti GV, Veggiotti P, Spaccini L, Iascone M, Verduci E, Cereda C, Tonduti D; XALD-NBS Study Group. Bonaventura E, et al. Among authors: cattaneo e. Front Neurol. 2023 Jan 9;13:1072256. doi: 10.3389/fneur.2022.1072256. eCollection 2022. Front Neurol. 2023. PMID: 36698902 Free PMC article.
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
Bestetti I, Crippa M, Sironi A, Tumiatti F, Masciadri M, Smeland MF, Naik S, Murch O, Bonati MT, Spano A, Cattaneo E, Mariani M, Gotta F, Crosti F, Cavalli P, Pantaleoni C, Natacci F, Bedeschi MF, Milani D, Maitz S, Selicorni A, Spaccini L, Peron A, Russo S, Larizza L, Low K, Finelli P. Bestetti I, et al. Among authors: cattaneo e. Int J Mol Sci. 2022 May 25;23(11):5912. doi: 10.3390/ijms23115912. Int J Mol Sci. 2022. PMID: 35682590 Free PMC article.
Guidelines for Vascular Anomalies by the Italian Society for the study of Vascular Anomalies (SISAV).
Stillo F, Mattassi R, Diociaiuti A, Neri I, Baraldini V, Dalmonte P, Amato B, Ametrano O, Amico G, Bianchini G, Campisi C, Cattaneo E, Causin F, Cavalli R, Colletti G, Corbeddu M, Coppo P, DE Fiores A, DI Giuseppe P, El Hachem M, Esposito F, Fulcheri E, Gandolfo C, Grussu F, Guglielmo A, Leuzzi M, Manunza F, Moneghini L, Monzani N, Nicodemi E, Occella C, Orso M, Pagella F, Paolantonio G, Pasetti F, Rollo M, Ruggiero F, Santecchia L, Spaccini L, Taurino M, Vaghi M, Vercellio G, Zama M, Zocca A, Aguglia M, Castronovo EL, DE Lorenzi E, Fontana E, Gusson E, Lanza J, Lizzio R, Mancardi MM, Rosina E. Stillo F, et al. Among authors: cattaneo e. Int Angiol. 2022 Apr;41(2 Suppl 1):1-130. doi: 10.23736/S0392-9590.22.04902-1. Int Angiol. 2022. PMID: 35546136 Free article. No abstract available.
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.
Raviglione F, Douzgou S, Scala M, Mingarelli A, D'Arrigo S, Freri E, Darra F, Giglio S, Bonaglia MC, Pantaleoni C, Mastrangelo M, Epifanio R, Elia M, Saletti V, Morlino S, Vari MS, De Liso P, Pavaine J, Spaccini L, Cattaneo E, Gardella E, Møller RS, Marchese F, Colonna C, Gandioli C, Gobbi G, Ram D, Palumbo O, Carella M, Germano M, Tonduti D, De Angelis D, Caputo D, Bergonzini P, Novara F, Zuffardi O, Verrotti A, Orsini A, Bonuccelli A, De Muto MC, Trivisano M, Vigevano F, Granata T, Bernardina BD, Tranchina A, Striano P. Raviglione F, et al. Among authors: cattaneo e. Seizure. 2021 May;88:60-72. doi: 10.1016/j.seizure.2021.03.025. Epub 2021 Mar 30. Seizure. 2021. PMID: 33831796 Free article.
29 results