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813 results

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Page 1
Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy.
Bergner CG, Breur M, Soto-Bernardini MC, Schäfer L, Lier J, Le Duc D, Bundalian L, Schubert S, Brenner D, Kreuz FR, Schulte B, Waisfisz Q, Bugiani M, Köhler W, Sticht H, Abou Jamra R, van der Knaap MS. Bergner CG, et al. Among authors: schubert s. Brain. 2024 Mar 15:awae085. doi: 10.1093/brain/awae085. Online ahead of print. Brain. 2024. PMID: 38489591
Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.
Neuser S, Krey I, Schwan A, Abou Jamra R, Bartolomaeus T, Döring J, Syrbe S, Plassmann M, Rohde S, Roth C, Rehder H, Radtke M, Le Duc D, Schubert S, Bermúdez-Guzmán L, Leal A, Schoner K, Popp B. Neuser S, et al. Among authors: schubert s. Eur J Hum Genet. 2022 Jan;30(1):101-110. doi: 10.1038/s41431-021-00982-y. Epub 2021 Oct 25. Eur J Hum Genet. 2022. PMID: 34697416 Free PMC article.
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
Neuser S, Brechmann B, Heimer G, Brösse I, Schubert S, O'Grady L, Zech M, Srivastava S, Sweetser DA, Dincer Y, Mall V, Winkelmann J, Behrends C, Darras BT, Graham RJ, Jayakar P, Byrne B, Bar-Aluma BE, Haberman Y, Szeinberg A, Aldhalaan HM, Hashem M, Al Tenaiji A, Ismayl O, Al Nuaimi AE, Maher K, Ibrahim S, Khan F, Houlden H, Ramakumaran VS, Pagnamenta AT, Posey JE, Lupski JR, Tan WH, ElGhazali G, Herman I, Muñoz T, Repetto GM, Seitz A, Krumbiegel M, Poli MC, Kini U, Efthymiou S, Meiler J, Maroofian R, Alkuraya FS, Abou Jamra R, Popp B, Ben-Zeev B, Ebrahimi-Fakhari D. Neuser S, et al. Among authors: schubert s. Hum Mutat. 2021 Jun;42(6):762-776. doi: 10.1002/humu.24206. Epub 2021 May 11. Hum Mutat. 2021. PMID: 33847017
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Bassani S, Chrast J, Ambrosini G, Voisin N, Schütz F, Brusco A, Sirchia F, Turban L, Schubert S, Abou Jamra R, Schlump JU, DeMille D, Bayrak-Toydemir P, Nelson GR, Wong KN, Duncan L, Mosera M, Gilissen C, Vissers LELM, Pfundt R, Kersseboom R, Yttervik H, Hansen GÅM, Smeland MF, Butler KM, Lyons MJ, Carvalho CMB, Zhang C, Lupski JR, Potocki L, Flores-Gallegos L, Morales-Toquero R, Petit F, Yalcin B, Tuttle A, Elloumi HZ, McCormick L, Kukolich M, Klaas O, Horvath J, Scala M, Iacomino M, Operto F, Zara F, Writzl K, Maver A, Haanpää MK, Pohjola P, Arikka H, Kievit AJA, Calandrini C, Iseli C, Guex N, Reymond A. Bassani S, et al. Among authors: schubert s. Genome Med. 2024 May 30;16(1):72. doi: 10.1186/s13073-024-01339-y. Genome Med. 2024. PMID: 38811945 Free PMC article.
Genetic and phenotypic spectrum in the NONO-associated syndromic disorder.
Roessler F, Beck AE, Susie B, Tobias B, Begtrup A, Biskup S, Caluseriu O, Delanty N, Fröhlich C, Greally MT, Karnstedt M, Klöckner C, Kurtzberg J, Schubert S, Schulze M, Weidenbach M, Westphal DS, White M, Wolf CM, Zyskind J, Popp B, Strehlow V. Roessler F, et al. Among authors: schubert s. Am J Med Genet A. 2023 Feb;191(2):469-478. doi: 10.1002/ajmg.a.63044. Epub 2022 Nov 25. Am J Med Genet A. 2023. PMID: 36426740 Review.
Germline NPAT inactivating variants as cause of hereditary colorectal cancer.
Terradas M, Schubert SA, Viana-Errasti J, Ruano D, Aiza G, Nielsen M, Marciel P, Tops CM, Parra G, Morreau H, Torrents D, van Leerdam ME, Capellá G, de Miranda NFCC, Valle L, van Wezel T. Terradas M, et al. Among authors: schubert sa. Eur J Hum Genet. 2024 May 22. doi: 10.1038/s41431-024-01625-8. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38778081
European Association of Urology Guidelines on Urological Infections: Summary of the 2024 Guidelines.
Kranz J, Bartoletti R, Bruyère F, Cai T, Geerlings S, Köves B, Schubert S, Pilatz A, Veeratterapillay R, Wagenlehner FME, Bausch K, Devlies W, Horváth J, Leitner L, Mantica G, Mezei T, Smith EJ, Bonkat G. Kranz J, et al. Among authors: schubert s. Eur Urol. 2024 May 6:S0302-2838(24)02263-2. doi: 10.1016/j.eururo.2024.03.035. Online ahead of print. Eur Urol. 2024. PMID: 38714379 Free article. Review.
Lessons learned in a decade: Medical-toxicological view of tattooing.
Giulbudagian M, Battisini B, Bäumler W, Blass Rico AM, Bocca B, Brungs C, Famele M, Foerster M, Gutsche B, Houben V, Hauri U, Karpienko K, Karst U, Katz LM, Kluger N, Serup J, Schreiver I, Schubert S, van der Bent SAS, Wolf C, Luch A, Laux P. Giulbudagian M, et al. Among authors: schubert s. J Eur Acad Dermatol Venereol. 2024 May 6. doi: 10.1111/jdv.20072. Online ahead of print. J Eur Acad Dermatol Venereol. 2024. PMID: 38709160 Review.
The Diagnosis, Treatment, and Prevention of Recurrent Urinary Tract Infection.
Schmiemann G, Kranz J, Mandraka F, Schubert S, Wagenlehner F, Gágyor I. Schmiemann G, et al. Among authors: schubert s. Dtsch Arztebl Int. 2024 May 31;(Forthcoming):arztebl.m2024.0068. doi: 10.3238/arztebl.m2024.0068. Online ahead of print. Dtsch Arztebl Int. 2024. PMID: 38686602 Free article. Review.
813 results