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Page 1
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.
Szot JO, Slavotinek A, Chong K, Brandau O, Nezarati M, Cueto-González AM, Patel MS, Devine WP, Rego S, Acyinena AP, Shannon P, Myles-Reid D, Blaser S, Mieghem TV, Yavuz-Kienle H, Skladny H, Miller K, Riera MDT, Martínez SA, Tizzano EF, Dupuis L, James Stavropoulos D, McNiven V, Mendoza-Londono R, Elliott AM; CAUSES Study; Phillips RS, Chapman G, Dunwoodie SL. Szot JO, et al. Among authors: skladny h. Hum Mutat. 2021 Jul;42(7):862-876. doi: 10.1002/humu.24211. Epub 2021 May 16. Hum Mutat. 2021. PMID: 33942433 Free PMC article.
Prognostic significance of clinical, histopathological, and molecular characteristics of medulloblastomas in the prospective HIT2000 multicenter clinical trial cohort.
Pietsch T, Schmidt R, Remke M, Korshunov A, Hovestadt V, Jones DT, Felsberg J, Kaulich K, Goschzik T, Kool M, Northcott PA, von Hoff K, von Bueren AO, Friedrich C, Mynarek M, Skladny H, Fleischhack G, Taylor MD, Cremer F, Lichter P, Faldum A, Reifenberger G, Rutkowski S, Pfister SM. Pietsch T, et al. Among authors: skladny h. Acta Neuropathol. 2014 Jul;128(1):137-49. doi: 10.1007/s00401-014-1276-0. Epub 2014 May 4. Acta Neuropathol. 2014. PMID: 24791927 Free PMC article. Clinical Trial.
Mirror-image asymmetry in monozygotic twins with kabuki syndrome.
Riess A, Dufke A, Riess O, Beck-Woedl S, Fode B, Skladny H, Klaes R, Tzschach A. Riess A, et al. Among authors: skladny h. Mol Syndromol. 2012 Aug;3(2):94-7. doi: 10.1159/000341251. Epub 2012 Jul 25. Mol Syndromol. 2012. PMID: 23326255 Free PMC article.
Problems in detecting mosaic DNA methylation in Angelman syndrome.
Horsthemke B, Lich C, Buiting K, Achmann R, Aulehla-Scholz C, Baumer A, Bürger J, Dworniczak B, Gläser D, Holinski-Feder E, Janssen B, Kleinle S, Kochhan L, Krasemann E, Kraus C, Kroisel P, Plendl H, Purmann S, Sander G, Skladny H, Spitzer E, Thamm-Mücke B, Varon-Mateeva R, Weinhäusel A, Weirich H. Horsthemke B, et al. Among authors: skladny h. Eur J Hum Genet. 2003 Dec;11(12):913-5. doi: 10.1038/sj.ejhg.5201078. Eur J Hum Genet. 2003. PMID: 14523374 No abstract available.
29 results