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

Year Number of Results
1999 1
2007 1
2008 1
2011 3
2012 1
2013 4
2014 3
2015 4
2016 1
2017 1
2020 1
2021 2
2022 1
2024 1

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23 results

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Page 1
A glimpse into past, present, and future DNA sequencing.
Morey M, Fernández-Marmiesse A, Castiñeiras D, Fraga JM, Couce ML, Cocho JA. Morey M, et al. Among authors: castineiras d. Mol Genet Metab. 2013 Sep-Oct;110(1-2):3-24. doi: 10.1016/j.ymgme.2013.04.024. Epub 2013 May 11. Mol Genet Metab. 2013. PMID: 23742747 Review.
Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis.
Couce ML, López-Suárez O, Bóveda MD, Castiñeiras DE, Cocho JA, García-Villoria J, Castro-Gago M, Fraga JM, Ribes A. Couce ML, et al. Among authors: castineiras de. Eur J Paediatr Neurol. 2013 Jul;17(4):383-9. doi: 10.1016/j.ejpn.2013.01.003. Epub 2013 Feb 5. Eur J Paediatr Neurol. 2013. PMID: 23395213
Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia.
Rocha H, Castiñeiras D, Delgado C, Egea J, Yahyaoui R, González Y, Conde M, González I, Rueda I, Rello L, Vilarinho L, Cocho J. Rocha H, et al. Among authors: castineiras d. JIMD Rep. 2014;16:89-94. doi: 10.1007/8904_2014_324. Epub 2014 Jul 11. JIMD Rep. 2014. PMID: 25012579 Free PMC article.
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.
Fernández-Marmiesse A, Morey M, Pineda M, Eiris J, Couce ML, Castro-Gago M, Fraga JM, Lacerda L, Gouveia S, Pérez-Poyato MS, Armstrong J, Castiñeiras D, Cocho JA. Fernández-Marmiesse A, et al. Among authors: castineiras d. Orphanet J Rare Dis. 2014 Apr 25;9:59. doi: 10.1186/1750-1172-9-59. Orphanet J Rare Dis. 2014. PMID: 24767253 Free PMC article.
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.
Couce ML, Sánchez-Pintos P, Diogo L, Leão-Teles E, Martins E, Santos H, Bueno MA, Delgado-Pecellín C, Castiñeiras DE, Cocho JA, García-Villoria J, Ribes A, Fraga JM, Rocha H. Couce ML, et al. Among authors: castineiras de. Orphanet J Rare Dis. 2013 Jul 10;8:102. doi: 10.1186/1750-1172-8-102. Orphanet J Rare Dis. 2013. PMID: 23842438 Free PMC article.
23 results