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Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.
Erger F, Aryal RP, Reusch B, Matsumoto Y, Meyer R, Zeng J, Knopp C, Noel M, Muerner L, Wenzel A, Kohl S, Tschernoster N, Rappl G, Rouvet I, Schröder-Braunstein J, Seibert FS, Thiele H, Häusler MG, Weber LT, Büttner-Herold M, Elbracht M, Cummings SF, Altmüller J, Habbig S, Cummings RD, Beck BB. Erger F, et al. Among authors: kohl s. Proc Natl Acad Sci U S A. 2023 May 30;120(22):e2211087120. doi: 10.1073/pnas.2211087120. Epub 2023 May 22. Proc Natl Acad Sci U S A. 2023. PMID: 37216524 Free PMC article.
Postnatal surgical treatment and complications following intrauterine vesicoamniotic shunting with the SOMATEX® intrauterine shunt. A single center experience.
Kohaut J, Fischer-Mertens J, Cernaianu G, Schulten D, Holtkamp G, Kohl S, Habbig S, Klein R, Kribs A, Gottschalk I, Berg C, Dübbers M. Kohaut J, et al. Among authors: kohl s. J Pediatr Urol. 2023 Oct;19(5):567.e1-567.e6. doi: 10.1016/j.jpurol.2023.06.027. Epub 2023 Jul 4. J Pediatr Urol. 2023. PMID: 37451915
Investigation of the hospital pharmacy profession in Europe.
Kuruc Poje D, Fitzpatrick RW, Stevens C, Machin C, Underhill J, Horák P, Batista A, Süle A, Miljković N, Plesan C, Kohl S, Marzal Lopez G. Kuruc Poje D, et al. Among authors: kohl s. Eur J Hosp Pharm. 2024 Apr 10:ejhpharm-2023-004066. doi: 10.1136/ejhpharm-2023-004066. Online ahead of print. Eur J Hosp Pharm. 2024. PMID: 38604616
An Atypical Mild Phenotype of Autosomal Recessive RPE65-Associated Retinitis Pigmentosa.
Merle DA, Kohl S, Reith M, Schäferhoff K, Zuleger T, Stühn L, Stingl K, Kempf M, Kühlewein L, Grasshoff U, Stingl K. Merle DA, et al. Among authors: kohl s. Klin Monbl Augenheilkd. 2024 Mar;241(3):266-271. doi: 10.1055/a-2264-5480. Epub 2024 Mar 20. Klin Monbl Augenheilkd. 2024. PMID: 38508215 English. No abstract available.
705 results