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Further evidence for POMK as candidate gene for WWS with meningoencephalocele.
Paul L, Rupprich K, Della Marina A, Stein A, Elgizouli M, Kaiser FJ, Schweiger B, Köninger A, Iannaccone A, Hehr U, Kölbel H, Roos A, Schara-Schmidt U, Kuechler A. Paul L, et al. Among authors: iannaccone a. Orphanet J Rare Dis. 2020 Sep 9;15(1):242. doi: 10.1186/s13023-020-01454-0. Orphanet J Rare Dis. 2020. PMID: 32907597 Free PMC article.
Pregnancies and Neonatal Outcomes in Patients with Sickle Cell Disease (SCD): Still a (High-)Risk Constellation?
Proske P, Distelmaier L, Aramayo-Singelmann C, Koliastas N, Iannaccone A, Papathanasiou M, Temme C, Klump H, Lenz V, Koldehoff M, Carpinteiro A, Reinhardt HC, Köninger A, Röth A, Yamamoto R, Dührsen U, Alashkar F. Proske P, et al. Among authors: iannaccone a. J Pers Med. 2021 Aug 30;11(9):870. doi: 10.3390/jpm11090870. J Pers Med. 2021. PMID: 34575647 Free PMC article.
299 results