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Page 1
Osteogenesis imperfecta-pathophysiology and therapeutic options.
Etich J, Leßmeier L, Rehberg M, Sill H, Zaucke F, Netzer C, Semler O. Etich J, et al. Among authors: lessmeier l. Mol Cell Pediatr. 2020 Aug 14;7(1):9. doi: 10.1186/s40348-020-00101-9. Mol Cell Pediatr. 2020. PMID: 32797291 Free PMC article. Review.
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
Velmans C, O'Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, Carmichael J, Chassaing N, Clark R, Coubes C, Denommé-Pichon AS, de Dios JK, England E, Funalot B, Gerard M, Joseph M, Kennedy C, Kumps C, Willems M, van de Laar IMBH, Aarts-Tesselaar C, van Slegtenhorst M, Lehalle D, Leppig K, Lessmeier L, Pais LS, Paterson H, Ramanathan S, Rodan LH, Superti-Furga A, Chung BHY, Sherr E, Netzer C, Schaaf CP, Erger F. Velmans C, et al. Among authors: lessmeier l. J Med Genet. 2022 Jul;59(7):697-705. doi: 10.1136/jmedgenet-2020-107470. Epub 2021 Jul 28. J Med Genet. 2022. PMID: 34321323 Free PMC article.
Hypomagnesemia is underestimated in children with HNF1B mutations.
Kołbuc M, Leßmeier L, Salamon-Słowińska D, Małecka I, Pawlaczyk K, Walkowiak J, Wysocki J, Beck BB, Zaniew M. Kołbuc M, et al. Among authors: lessmeier l. Pediatr Nephrol. 2020 Oct;35(10):1877-1886. doi: 10.1007/s00467-020-04576-6. Epub 2020 May 10. Pediatr Nephrol. 2020. PMID: 32388583