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Year | Number of Results |
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2022 | 2 |
2023 | 4 |
2024 | 1 |
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Page 1
Redox Imbalance in Neurological Disorders in Adults and Children.
Antioxidants (Basel). 2023 Apr 20;12(4):965. doi: 10.3390/antiox12040965.
Antioxidants (Basel). 2023.
PMID: 37107340
Free PMC article.
Review.
Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology.
Moresco G, Rondinone O, Mauri A, Costanza J, Santaniello C, Colapietro P, Micaglio E, Marfia G, Pesenti C, Grilli F, Rinaldi B, Prada E, Scuvera G, Villa R, Bedeschi MF, Miozzo MR, Milani D, Fontana L.
Moresco G, et al. Among authors: mauri a.
Genes Genomics. 2023 May;45(5):637-655. doi: 10.1007/s13258-022-01341-x. Epub 2022 Dec 1.
Genes Genomics. 2023.
PMID: 36454368
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Menkes disease complicated by concurrent ACY1 deficiency: A case report.
Mauri A, Saielli LA, Alfei E, Iascone M, Marchetti D, Cattaneo E, Di Lauro A, Antonelli L, Alberti L, Bonaventura E, Veggiotti P, Spaccini L, Cereda C.
Mauri A, et al.
Front Genet. 2023 Mar 2;14:1077625. doi: 10.3389/fgene.2023.1077625. eCollection 2023.
Front Genet. 2023.
PMID: 36936426
Free PMC article.
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Molecular Genetics of GLUT1DS Italian Pediatric Cohort: 10 Novel Disease-Related Variants and Structural Analysis.
Mauri A, Duse A, Palm G, Previtali R, Bova SM, Olivotto S, Benedetti S, Coscia F, Veggiotti P, Cereda C.
Mauri A, et al.
Int J Mol Sci. 2022 Nov 4;23(21):13560. doi: 10.3390/ijms232113560.
Int J Mol Sci. 2022.
PMID: 36362347
Free PMC article.
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Subcutaneous Adipose Tissue Transcriptome Highlights Specific Expression Profiles in Severe Pediatric Obesity: A Pilot Study.
Berardo C, Calcaterra V, Mauri A, Carelli S, Messa L, Destro F, Rey F, Cordaro E, Pelizzo G, Zuccotti G, Cereda C.
Berardo C, et al. Among authors: mauri a.
Cells. 2023 Apr 7;12(8):1105. doi: 10.3390/cells12081105.
Cells. 2023.
PMID: 37190014
Free PMC article.
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Towards genomic-Newborn Screening: Technical feasibility of Exome Sequencing starting from dried blood spots.
Mauri A, Berardo C, Biganzoli D, Meta A, Benedetti S, Rey F, Messa L, Zuccotti GV, Carelli S, Alberti L, Cereda C.
Mauri A, et al.
Mol Genet Metab Rep. 2024 Mar 20;39:101074. doi: 10.1016/j.ymgmr.2024.101074. eCollection 2024 Jun.
Mol Genet Metab Rep. 2024.
PMID: 38544910
Free PMC article.
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