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Variants in BRCA1/2 in a hospital-based cohort in Chile and national literature review.
Ecancermedicalscience. 2024 Mar 21;18:1683. doi: 10.3332/ecancer.2024.1683. eCollection 2024.
Ecancermedicalscience. 2024.
PMID: 38566764
Free PMC article.
The Phenotypic Spectrum of Spinocerebellar Ataxia Type 19 in a Series of Latin American Patients.
Avila-Jaque D, Martin F, Bustamante ML, Luna Álvarez M, Fernández JM, Dávila Ortiz de Montellano DJ, Pardo R, Varela D, Miranda M.
Avila-Jaque D, et al.
Cerebellum. 2024 Jan 5. doi: 10.1007/s12311-023-01654-x. Online ahead of print.
Cerebellum. 2024.
PMID: 38180701
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[Alagille syndrome associated to JAG1 gene deletion. An unusual etiology].
Avila-Jaque D, Díaz C, Pardo R.
Avila-Jaque D, et al.
Andes Pediatr. 2024 Apr;95(2):196-201. doi: 10.32641/andespediatr.v95i2.4820. Epub 2024 Apr 13.
Andes Pediatr. 2024.
PMID: 38801368
Free article.
Spanish.
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