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

Year Number of Results
2004 1
2010 1
2011 1
2012 1
2013 1
2014 5
2015 3
2016 4
2017 2
2018 5
2019 3
2020 1
2021 1
2022 2
2023 1
2024 1

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29 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: negrao l. Hum Mutat. 2018 Oct;39(10):1314-1337. doi: 10.1002/humu.23599. Epub 2018 Aug 10. Hum Mutat. 2018. PMID: 30055037 Review.
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
Barbosa-Gouveia S, Vázquez-Mosquera ME, González-Vioque E, Hermida-Ameijeiras Á, Sánchez-Pintos P, de Castro MJ, León SR, Gil-Fournier B, Domínguez-González C, Camacho Salas A, Negrão L, Fineza I, Laranjeira F, Couce ML. Barbosa-Gouveia S, et al. Among authors: negrao l. J Clin Med. 2022 May 12;11(10):2750. doi: 10.3390/jcm11102750. J Clin Med. 2022. PMID: 35628876 Free PMC article.
Vasculitic peripheral neuropathy in deficiency of adenosine deaminase 2.
Carneiro DR, Rebelo O, Matos A, Baldeiras I, Almendra L, Fernandes C, Negrão L, Almeida MR, Matias F, Brás J, Guerreiro R, Santo GC. Carneiro DR, et al. Among authors: negrao l. Neuromuscul Disord. 2021 Sep;31(9):891-895. doi: 10.1016/j.nmd.2021.05.001. Epub 2021 May 14. Neuromuscul Disord. 2021. PMID: 34210540
Multicentric Genome-Wide Association Study for Primary Spontaneous Pneumothorax.
Sousa I, Abrantes P, Francisco V, Teixeira G, Monteiro M, Neves J, Norte A, Robalo Cordeiro C, Moura E Sá J, Reis E, Santos P, Oliveira M, Sousa S, Fradinho M, Malheiro F, Negrão L, Feijó S, Oliveira SA. Sousa I, et al. Among authors: negrao l. PLoS One. 2016 May 20;11(5):e0156103. doi: 10.1371/journal.pone.0156103. eCollection 2016. PLoS One. 2016. PMID: 27203581 Free PMC article.
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: negrao l. 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
29 results