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Molecular Genetics & Genomic Medicine|June 26, 2019
Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21Maria Chiara Pelleri, Elena Cicchini, Michael B Petersen, et al.
Human Genomics|May 2, 2021
The transcriptome profile of human trisomy 21 blood cellsFrancesca Antonaros, Rossella Zenatelli, Giulia Guerri, et al.
BMC Medical Genomics|December 21, 2022
Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype associationMaria Chiara Pelleri, Chiara Locatelli, Teresa Mattina, et al.
Plos One|November 25, 2014
Age-related changes of adaptive and neuropsychological features in persons with Down SyndromeAlessandro Ghezzo, Stefano Salvioli, Maria Caterina Solimando, et al.
International Journal of Molecular Medicine|April 25, 2019
Analysis of a nanoparticle‑enriched fraction of plasma reveals miRNA candidates for Down syndrome pathogenesisAlessandro Salvi, Marika Vezzoli, Sara Busatto, et al.
International Journal of Molecular Medicine|June 8, 2019
[Corrigendum] Analysis of a nanoparticle‑enriched fraction of plasma reveals miRNA candidates for Down syndrome pathogenesisAlessandro Salvi, Marika Vezzoli, Sara Busatto, et al.
Scientific Reports|February 16, 2018
Plasma and urinary metabolomic profiles of Down syndrome correlate with alteration of mitochondrial metabolismMaria Caracausi, Veronica Ghini, Chiara Locatelli, et al.
American Journal of Medical Genetics. Part A|April 4, 2025
Growth Charts for Children With Beckwith-Wiedemann SpectrumSaskia M Maas, Peter Lauffer, Guido Cocchi, et al.
Frontiers in Medicine|December 19, 2022
One-carbon pathway metabolites are altered in the plasma of subjects with Down syndrome: Relation to chromosomal dosageBeatrice Vione, Giuseppe Ramacieri, Giacomo Zavaroni, et al.
Frontiers in Medicine|July 3, 2024
Corrigendum: One-carbon pathway metabolites are altered in the plasma of subjects with Down syndrome: relation to chromosomal dosageBeatrice Vione, Giuseppe Ramacieri, Giacomo Zavaroni, et al.
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