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Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape.
David D, Freixo JP, Fino J, Carvalho I, Marques M, Cardoso M, Piña-Aguilar RE, Morton CC. David D, et al. Among authors: freixo jp. Hum Genet. 2020 Apr;139(4):531-543. doi: 10.1007/s00439-020-02121-x. Epub 2020 Feb 6. Hum Genet. 2020. PMID: 32030560 Free PMC article.
Imaging in FIG 4-Related Parkinsonism.
Silva L, Freixo JP, Brandão AF, Cardoso M, Damásio J. Silva L, et al. Among authors: freixo jp. Mov Disord Clin Pract. 2023 Aug 16;10(10):1566-1567. doi: 10.1002/mdc3.13855. eCollection 2023 Oct. Mov Disord Clin Pract. 2023. PMID: 37868919 Free PMC article. No abstract available.
Diagnosis across a cohort of "atypical" atypical and complex parkinsonism.
Malaquias MJ, Igreja L, Nogueira C, Pereira C, Vilarinho L, Quelhas D, Freixo JP, Oliveira J, Magalhães M. Malaquias MJ, et al. Among authors: freixo jp. Parkinsonism Relat Disord. 2023 Jun;111:105408. doi: 10.1016/j.parkreldis.2023.105408. Epub 2023 Apr 20. Parkinsonism Relat Disord. 2023. PMID: 37105015
19 results