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A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia.
Sibbin K, Yap P, Nyaga D, Heller R, Evans S, Strachan K, Alburaiky S, Nguyen HMA, Hermann-Le Denmat S, Ganley ARD, O'Sullivan JM, Bloomfield FH. Sibbin K, et al. Among authors: hermann le denmat s. Am J Med Genet A. 2022 Apr;188(4):1299-1306. doi: 10.1002/ajmg.a.62631. Epub 2021 Dec 31. Am J Med Genet A. 2022. PMID: 34970864 Free PMC article.
Contribution of ERMES subunits to mature peroxisome abundance.
Esposito M, Hermann-Le Denmat S, Delahodde A. Esposito M, et al. Among authors: hermann le denmat s. PLoS One. 2019 Mar 25;14(3):e0214287. doi: 10.1371/journal.pone.0214287. eCollection 2019. PLoS One. 2019. PMID: 30908556 Free PMC article.
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