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1992
2025

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Year Number of Results
1992 1
2000 1
2001 1
2002 1
2008 1
2009 4
2010 3
2011 3
2013 1
2015 1
2017 1
2019 1
2021 2
2024 4
2025 0

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22 results

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Page 1
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View.
De Maria B, de Jager T, Sarubbi C, Bartsch O, Bianchi A, Brancati F, Chung HB, David A, Kariminejad A, Foresti M, Gallottini M, Isidor B, Marchegiani S, Martins F, Mazzanti L, Roche N, Singh A, Stevens C, Suga K, Zenker M, Hennekam RC. De Maria B, et al. Among authors: marchegiani s. Mol Syndromol. 2017 Jun;8(4):172-178. doi: 10.1159/000472408. Epub 2017 Apr 27. Mol Syndromol. 2017. PMID: 28690482 Free PMC article.
Hypotonia and Failure to Thrive in a 6-week-old Infant.
Carter E, Malchodi L, Marchegiani S. Carter E, et al. Among authors: marchegiani s. Pediatr Rev. 2019 Oct;40(Suppl 1):31-33. doi: 10.1542/pir.2016-0081. Pediatr Rev. 2019. PMID: 31575693 No abstract available.
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC. Marchegiani S, et al. Am J Hum Genet. 2015 Jul 2;97(1):99-110. doi: 10.1016/j.ajhg.2015.05.017. Epub 2015 Jun 25. Am J Hum Genet. 2015. PMID: 26119818 Free PMC article.
Informal caregivers compared with users and health workers on well-being and respect for human rights in mental health care services.
Atzeni M, Primavera D, Aviles Gonzales CI, Galletta M, Marchegiani S, La Torre G, Sancassiani F, Nonnis M, Urban A, Cantone E, Romano F, Nardi AE, Carta MG. Atzeni M, et al. Among authors: marchegiani s. J Public Health Res. 2024 Sep 30;13(3):22799036241274960. doi: 10.1177/22799036241274960. eCollection 2024 Jul. J Public Health Res. 2024. PMID: 39360031 Free PMC article.
22 results