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Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia.
Hedberg-Oldfors C, Mitra S, Molinaro A, Visuttijai K, Fogelstrand L, Oldfors A, Sterky FH, Darin N. Hedberg-Oldfors C, et al. Among authors: molinaro a. Eur J Hum Genet. 2023 Aug;31(8):887-894. doi: 10.1038/s41431-023-01327-7. Epub 2023 Mar 20. Eur J Hum Genet. 2023. PMID: 36935417 Free PMC article.
Liprin-α proteins are master regulators of human presynapse assembly.
Marcó de la Cruz B, Campos J, Molinaro A, Xie X, Jin G, Wei Z, Acuna C, Sterky FH. Marcó de la Cruz B, et al. Among authors: molinaro a. Nat Neurosci. 2024 Apr;27(4):629-642. doi: 10.1038/s41593-024-01592-9. Epub 2024 Mar 12. Nat Neurosci. 2024. PMID: 38472649 Free PMC article.
Association of immunoglobulin E levels with glioma risk and survival.
Guerra G, Nakase T, Kachuri L, McCoy L, Hansen HM, Rice T, Wiemels JL, Wiencke JK, Molinaro AM, Wrensch M, Francis SS. Guerra G, et al. Among authors: molinaro am. medRxiv [Preprint]. 2024 May 9:2024.05.09.24307132. doi: 10.1101/2024.05.09.24307132. medRxiv. 2024. PMID: 38766059 Free PMC article. Preprint.
668 results