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Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn.
Higgins R, Jensen AN, Wachstein J, Bruckner-Tuderman L, Spiegel R, Traber H, Achermann J, Schaller M, Fehrenbacher B, Röcken M, Ignatova D, Chang YT, Fischer T, Schwieger-Briel AE, French LE, Hoetzenecker W, Hornung R, Malzacher A, Cozzio A, Navarini A, Has C, Guenova E. Higgins R, et al. Among authors: hornung r. Acta Derm Venereol. 2020 Jan 30;100(1):adv00041. doi: 10.2340/00015555-3313. Acta Derm Venereol. 2020. PMID: 31502654 Free PMC article. No abstract available.
Nano-analytical characterization of endogenous minerals in healthy placental tissue: mineral distribution, composition and ultrastructure.
Anthis AHC , Tsolaki E , Didierlaurent L , Staubli S , Zboray R , Neels A , Dietrich D , Manser P , Desbiolles LM , Leschka S , Wildermuth S , Lehner S , Chavatte-Palmer P , Jochum W , Wick P , Dommann A , Bürki-Turnherr T , Fischer T , Hornung R , Bertazzo S , Herrmann IK . Anthis AHC , et al. Among authors: hornung r. Analyst. 2019 Nov 18;144(23):6850-6857. doi: 10.1039/c9an01312a. Analyst. 2019. PMID: 31591608
475 results