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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.
First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities.
Candelo E, Caicedo G, Rosso F, Ballesteros A, Orrego J, Escobar L, Lapunzina P, Nevado J, Pachajoa H. Candelo E, et al. Among authors: pachajoa h. Appl Clin Genet. 2019 Jul 30;12:141-150. doi: 10.2147/TACG.S190661. eCollection 2019. Appl Clin Genet. 2019. PMID: 31440073 Free PMC article.
118 results