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2014 | 1 |
2018 | 1 |
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Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome.
Int J Mol Sci. 2014 Jun 10;15(6):10350-64. doi: 10.3390/ijms150610350.
Int J Mol Sci. 2014.
PMID: 24918291
Free PMC article.
[Molecular and clinical characterization of Colombian patients suffering from type III glycogen storage disease].
Mantilla C, Toro M, Sepúlveda ME, Insuasty M, Di Filippo D, López JÁ, Baquero C, Navas MC, Arias AA.
Mantilla C, et al. Among authors: baquero c.
Biomedica. 2018 May 1;38(0):30-42. doi: 10.7705/biomedica.v38i0.3454.
Biomedica. 2018.
PMID: 29809327
Free article.
Spanish.
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