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

Year Number of Results
2003 4
2004 2
2005 2
2006 1
2007 3
2008 1
2009 4
2010 4
2011 3
2012 6
2013 3
2014 2
2015 1
2016 1
2017 6
2018 3
2019 2
2020 2
2021 6
2022 4
2023 2
2024 1

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53 results

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Page 1
The Genetic Landscape and Epidemiology of Phenylketonuria.
Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Đorđević M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N. Hillert A, et al. Among authors: chiesa ae. Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi: 10.1016/j.ajhg.2020.06.006. Epub 2020 Jul 14. Am J Hum Genet. 2020. PMID: 32668217 Free PMC article.
Long-Term Safety and Efficacy of Eculizumab in Aquaporin-4 IgG-Positive NMOSD.
Wingerchuk DM, Fujihara K, Palace J, Berthele A, Levy M, Kim HJ, Nakashima I, Oreja-Guevara C, Wang KC, Miller L, Shang S, Sabatella G, Yountz M, Pittock SJ; PREVENT Study Group. Wingerchuk DM, et al. Ann Neurol. 2021 Jun;89(6):1088-1098. doi: 10.1002/ana.26049. Epub 2021 Feb 27. Ann Neurol. 2021. PMID: 33586143 Free PMC article. Clinical Trial.
Genetics and genomic medicine in Argentina.
Vishnopolska SA, Turjanski AG, Herrera Piñero M, Groisman B, Liascovich R, Chiesa A, Marti MA. Vishnopolska SA, et al. Among authors: chiesa a. Mol Genet Genomic Med. 2018 Jul 26;6(4):481-91. doi: 10.1002/mgg3.455. Online ahead of print. Mol Genet Genomic Med. 2018. PMID: 30051615 Free PMC article.
Galactose epimerase deficiency: lessons from the GalNet registry.
Derks B, Demirbas D, Arantes RR, Banford S, Burlina AB, Cabrera A, Chiesa A, Couce ML, Dionisi-Vici C, Gautschi M, Grünewald S, Morava E, Möslinger D, Scholl-Bürgi S, Skouma A, Stepien KM, Timson DJ, Berry GT, Rubio-Gozalbo ME. Derks B, et al. Among authors: chiesa a. Orphanet J Rare Dis. 2022 Sep 2;17(1):331. doi: 10.1186/s13023-022-02494-4. Orphanet J Rare Dis. 2022. PMID: 36056436 Free PMC article.
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria.
Muntau AC, Adams DJ, Bélanger-Quintana A, Bushueva TV, Cerone R, Chien YH, Chiesa A, Coşkun T, de Las Heras J, Feillet F, Katz R, Lagler F, Piazzon F, Rohr F, van Spronsen FJ, Vargas P, Wilcox G, Bhattacharya K. Muntau AC, et al. Among authors: chiesa a. Mol Genet Metab. 2019 May;127(1):1-11. doi: 10.1016/j.ymgme.2019.04.004. Epub 2019 Apr 26. Mol Genet Metab. 2019. PMID: 31103398 Free article. Review.
Improving safety in paediatric thyroidectomy by PTH measurements.
Freire AV, Ropelato MG, Papendieck P, Vieites A, Elías E, Ballerini MG, Rodriguez ME, Bergadá I, Chiesa A. Freire AV, et al. Among authors: chiesa a. Clin Endocrinol (Oxf). 2021 Nov;95(5):760-765. doi: 10.1111/cen.14552. Epub 2021 Jul 16. Clin Endocrinol (Oxf). 2021. PMID: 34219257
Predicting hypocalcemia after thyroidectomy in children.
Freire AV, Ropelato MG, Ballerini MG, Acha O, Bergadá I, de Papendieck LG, Chiesa A. Freire AV, et al. Among authors: chiesa a. Surgery. 2014 Jul;156(1):130-6. doi: 10.1016/j.surg.2014.02.016. Epub 2014 Feb 27. Surgery. 2014. PMID: 24929763 Clinical Trial.
53 results