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Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome.
Schön M, Lapunzina P, Nevado J, Mattina T, Gunnarsson C, Hadzsiev K, Verpelli C, Bourgeron T, Jesse S, van Ravenswaaij-Arts CMA; European Phelan-McDermid syndrome consortium; Hennekam RC. Schön M, et al. Eur J Med Genet. 2023 Jul;66(7):104754. doi: 10.1016/j.ejmg.2023.104754. Epub 2023 Mar 31. Eur J Med Genet. 2023. PMID: 37003575 Free article.
Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome.
Vitrac A, Leblond CS, Rolland T, Cliquet F, Mathieu A, Maruani A, Delorme R, Schön M, Grabrucker AM, van Ravenswaaij-Arts C, Phelan K, Tabet AC, Bourgeron T. Vitrac A, et al. Among authors: schon m. Eur J Med Genet. 2023 May;66(5):104732. doi: 10.1016/j.ejmg.2023.104732. Epub 2023 Feb 21. Eur J Med Genet. 2023. PMID: 36822569 Free article. Review.
Erste Episode einer generalisierten pustulösen Psoriasis oder akute generalisierte exanthematische Pustulose? Eine Fallstudie: First episode of generalized pustular psoriasis or acute generalized exanthematous pustulosis? A case study.
Cramer N, Buhl T, Schön MP, Mössner R. Cramer N, et al. Among authors: schon mp. J Dtsch Dermatol Ges. 2024 May;22(5):693-695. doi: 10.1111/ddg.15332_g. J Dtsch Dermatol Ges. 2024. PMID: 38730514 German. No abstract available.
740 results