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Novel Variants of SOX4 in Patients with Intellectual Disability.
Grosse M, Kuechler A, Dabir T, Spranger S, Beck-Wödl S, Bertrand M, Haack TB, Grasemann C, Manka E, Depienne C, Kaiser FJ. Grosse M, et al. Among authors: beck wodl s. Int J Mol Sci. 2023 Feb 9;24(4):3519. doi: 10.3390/ijms24043519. Int J Mol Sci. 2023. PMID: 36834931 Free PMC article.
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals.
Kampmeier A, Leitão E, Parenti I, Beygo J, Depienne C, Bramswig NC, Hsieh TC, Afenjar A, Beck-Wödl S, Grasshoff U, Haack TB, Bijlsma EK, Ruivenkamp C, Lausberg E, Elbracht M, Haanpää MK, Koillinen H, Heinrich U, Rost I, Jamra RA, Popp D, Koch-Hogrebe M, Rostasy K, López-González V, Sanchez-Soler MJ, Macedo C, Schmetz A, Steinborn C, Weidensee S, Lesmann H, Marbach F, Caro P, Schaaf CP, Krawitz P, Wieczorek D, Kaiser FJ, Kuechler A. Kampmeier A, et al. Among authors: beck wodl s. Front Cell Dev Biol. 2023 Jan 16;10:1020609. doi: 10.3389/fcell.2022.1020609. eCollection 2022. Front Cell Dev Biol. 2023. PMID: 36726590 Free PMC article.
Phenotypic variation between siblings with Metachromatic Leukodystrophy.
Elgün S, Waibel J, Kehrer C, van Rappard D, Böhringer J, Beck-Wödl S, Just J, Schöls L, Wolf N, Krägeloh-Mann I, Groeschel S. Elgün S, et al. Orphanet J Rare Dis. 2019 Jun 11;14(1):136. doi: 10.1186/s13023-019-1113-6. Orphanet J Rare Dis. 2019. PMID: 31186049 Free PMC article.
Clinical, ocular motor, and imaging profile of Niemann-Pick type C heterozygosity.
Bremova-Ertl T, Sztatecsny C, Brendel M, Moser M, Möller B, Clevert DA, Beck-Wödl S, Kun-Rodrigues C, Bras J, Rominger A, Ninov D, Strupp M, Schneider SA. Bremova-Ertl T, et al. Neurology. 2020 Apr 21;94(16):e1702-e1715. doi: 10.1212/WNL.0000000000009290. Epub 2020 Mar 31. Neurology. 2020. PMID: 32234823
34 results