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[Prevalence of birth defects in Risaralda, 2010-2013].
Porras-Hurtado GL, León-Castañeda OM, Molano-Hurtado J, Quiceno SL, Pachajoa H, Montoya JJ. Porras-Hurtado GL, et al. Among authors: pachajoa h. Biomedica. 2016 Dec 1;36(4):556-563. doi: 10.7705/biomedica.v36i4.2771. Biomedica. 2016. PMID: 27992982 Free article. Spanish.
Novel ATP7A gene mutation in a patient with Menkes disease.
Caicedo-Herrera G, Candelo E, Pinilla J, Vidal A, Cruz S, Pachajoa HM. Caicedo-Herrera G, et al. Appl Clin Genet. 2018 Nov 22;11:151-155. doi: 10.2147/TACG.S180087. eCollection 2018. Appl Clin Genet. 2018. PMID: 30538525 Free PMC article.
A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome.
Ríos-Serna LJ, Díaz-Ordoñez L, Candelo E, Pachajoa H. Ríos-Serna LJ, et al. Among authors: pachajoa h. Appl Clin Genet. 2018 Nov 23;11:157-162. doi: 10.2147/TACG.S183418. eCollection 2018. Appl Clin Genet. 2018. PMID: 30538526 Free PMC article.
113 results