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Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes.
Frebourg T, Bajalica Lagercrantz S, Oliveira C, Magenheim R, Evans DG; European Reference Network GENTURIS. Frebourg T, et al. Among authors: magenheim r. Eur J Hum Genet. 2020 Oct;28(10):1379-1386. doi: 10.1038/s41431-020-0638-4. Epub 2020 May 26. Eur J Hum Genet. 2020. PMID: 32457520 Free PMC article.
Reply to Kratz et al.
Frebourg T, Lagercrantz SB, Oliveira C, Magenheim R, Evans DG; European Reference Network GENTURIS. Frebourg T, et al. Among authors: magenheim r. Eur J Hum Genet. 2020 Nov;28(11):1483-1485. doi: 10.1038/s41431-020-00710-y. Epub 2020 Aug 13. Eur J Hum Genet. 2020. PMID: 32792624 Free PMC article. No abstract available.
The IRDiRC Chrysalis Task Force: making rare disease research attractive to companies.
Beaverson KL, Julkowska D, Letinturier MCV, Aartsma-Rus A, Austin J, Bueren J, Frost S, Hamamura M, Larkindale J, LaRosa G, Magenheim R, Merico A, Gerdina Pasmooij AM, Pirard V, Ekow Thomford N, Wada M, Wong-Rieger D, Hartman AL. Beaverson KL, et al. Among authors: magenheim r. Ther Adv Rare Dis. 2023 Jul 29;4:26330040231188979. doi: 10.1177/26330040231188979. eCollection 2023 Jan-Dec. Ther Adv Rare Dis. 2023. PMID: 37529076 Free PMC article.
Placental protein 13 (galectin-13) has decreased placental expression but increased shedding and maternal serum concentrations in patients presenting with preterm pre-eclampsia and HELLP syndrome.
Than NG, Abdul Rahman O, Magenheim R, Nagy B, Fule T, Hargitai B, Sammar M, Hupuczi P, Tarca AL, Szabo G, Kovalszky I, Meiri H, Sziller I, Rigo J Jr, Romero R, Papp Z. Than NG, et al. Among authors: magenheim r. Virchows Arch. 2008 Oct;453(4):387-400. doi: 10.1007/s00428-008-0658-x. Epub 2008 Sep 13. Virchows Arch. 2008. PMID: 18791734 Free PMC article.