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

Year Number of Results
1996 1
1997 1
2001 1
2005 2
2008 2
2010 2
2012 1
2013 3
2014 4
2015 1
2016 2
2017 1
2018 1
2019 2
2022 0
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23 results
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Page 1
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes.
Oliveira J, Gruber A, Cardoso M, Taipa R, Fineza I, Gonçalves A, Laner A, Winder TL, Schroeder J, Rath J, Oliveira ME, Vieira E, Sousa AP, Vieira JP, Lourenço T, Almendra L, Negrão L, Santos M, Melo-Pires M, Coelho T, den Dunnen JT, Santos R, Sousa M. Oliveira J, et al. Among authors: fineza i. Hum Mutat. 2018 Oct;39(10):1314-1337. doi: 10.1002/humu.23599. Epub 2018 Aug 10. Hum Mutat. 2018. PMID: 30055037 Review.
GNAO1 mutation presenting as dyskinetic cerebral palsy.
Malaquias MJ, Fineza I, Loureiro L, Cardoso L, Alonso I, Magalhães M. Malaquias MJ, et al. Among authors: fineza i. Neurol Sci. 2019 Oct;40(10):2213-2216. doi: 10.1007/s10072-019-03964-7. Epub 2019 Jun 12. Neurol Sci. 2019. PMID: 31190250 No abstract available.
[Cerebral creatine deficiency syndromes].
Malheiro R, Diogo L, Garcia P, Fineza I, Oliveira G. Malheiro R, et al. Among authors: fineza i. Acta Med Port. 2012 Nov-Dec;25(6):389-98. Epub 2013 Jan 28. Acta Med Port. 2012. PMID: 23534590 Free article. Portuguese.
Screening for Pompe disease in a Portuguese high risk population.
Almeida V, Conceição I, Fineza I, Coelho T, Silveira F, Santos M, Valverde A, Geraldo A, Maré R, Aguiar TC, Mendonça C, Martins J, Medeiros L, Barroso C, Vieira JP, Moreno T, Negrão L, Dias MS, Lacerda L, Evangelista T. Almeida V, et al. Among authors: fineza i. Neuromuscul Disord. 2017 Aug;27(8):777-781. doi: 10.1016/j.nmd.2017.03.010. Epub 2017 Mar 29. Neuromuscul Disord. 2017. PMID: 28554557
Spinal muscular atrophy--noninvasive ventilatory support in pediatrics.
Vasconcelos M, Fineza I, Félix M, Estêvão MH. Vasconcelos M, et al. Among authors: fineza i. Rev Port Pneumol. 2005 Sep-Oct;11(5):443-55. doi: 10.1016/s0873-2159(15)30520-1. Rev Port Pneumol. 2005. PMID: 16288344 Free article. English, Portuguese.
23 results