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Page 1
Stone Babies: A Pictorial Essay With Insights From 25 Museal Lithopaedions.
Boer LL, Wasserscheid A, Winter E, de Rooy L, Schepens-Franke AN, Magno G, Cusan A, Rehder H, Behunova J, Scharrer A, Lobé N, Peloschek P, Oostra RJ, Kircher SG. Boer LL, et al. Among authors: kircher sg. Birth Defects Res. 2024 Nov;116(11):e2410. doi: 10.1002/bdr2.2410. Birth Defects Res. 2024. PMID: 39482277
The Tomographic Study and the Phenotype of Wormian Bones.
Al Kaissi A, Ryabykh S, Ben Chehida F, Al Kaissi H, Kircher SG, Stransky MJ, Grill F. Al Kaissi A, et al. Among authors: kircher sg. Diagnostics (Basel). 2023 Feb 24;13(5):874. doi: 10.3390/diagnostics13050874. Diagnostics (Basel). 2023. PMID: 36900016 Free PMC article.
Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities.
Al Kaissi A, Ryabykh S, Nassib N, Bouchoucha S, Benjemaa L, Rejeb I, Hizem S, Kenis V, Grill F, Kircher SG, Shboul M, Ben Chehida F. Al Kaissi A, et al. Among authors: kircher sg. Diagnostics (Basel). 2022 Sep 30;12(10):2375. doi: 10.3390/diagnostics12102375. Diagnostics (Basel). 2022. PMID: 36292064 Free PMC article.
Torticollis in Connection with Spine Phenotype.
Al Kaissi A, Nassib N, Bouchoucha S, Shboul M, Grill F, Kircher SG, Ochirova P, Ryabykh S. Al Kaissi A, et al. Among authors: kircher sg. Diagnostics (Basel). 2022 Jul 9;12(7):1672. doi: 10.3390/diagnostics12071672. Diagnostics (Basel). 2022. PMID: 35885576 Free PMC article.
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency.
Verheyen S, Blatterer J, Speicher MR, Bhavani GS, Boons GJ, Ilse MB, Andrae D, Sproß J, Vaz FM, Kircher SG, Posch-Pertl L, Baumgartner D, Lübke T, Shah H, Al Kaissi A, Girisha KM, Plecko B. Verheyen S, et al. Among authors: kircher sg. J Med Genet. 2022 Oct;59(10):957-964. doi: 10.1136/jmedgenet-2021-108061. Epub 2021 Dec 16. J Med Genet. 2022. PMID: 34916232 Free PMC article.
100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021.
Ramoser G, Caferri F, Radlinger B, Brunner-Krainz M, Herbst S, Huemer M, Hufgard-Leitner M, Kircher SG, Konstantopoulou V, Löscher W, Möslinger D, Plecko B, Spenger J, Stulnig T, Sunder-Plassmann G, Wortmann S, Scholl-Bürgi S, Karall D; Austrian IMD Registry Group. Ramoser G, et al. Among authors: kircher sg. J Inherit Metab Dis. 2022 Mar;45(2):144-156. doi: 10.1002/jimd.12442. Epub 2021 Oct 17. J Inherit Metab Dis. 2022. PMID: 34595757 Free PMC article.
44 results