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Page 1
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: glaser d. 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.
Characterization of FMR1 promoter elements by in vivo-footprinting analysis.
Schwemmle S, de Graaff E, Deissler H, Gläser D, Wöhrle D, Kennerknecht I, Just W, Oostra BA, Döerfler W, Vogel W, Steinbach P. Schwemmle S, et al. Among authors: glaser d. Am J Hum Genet. 1997 Jun;60(6):1354-62. doi: 10.1086/515456. Am J Hum Genet. 1997. PMID: 9199556 Free PMC article.
Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?
Müller-Felber W, Vill K, Schwartz O, Gläser D, Nennstiel U, Wirth B, Burggraf S, Röschinger W, Becker M, Durner J, Eggermann K, Müller C, Hannibal I, Olgemöller B, Schara U, Blaschek A, Kölbel H. Müller-Felber W, et al. Among authors: glaser d. J Neuromuscul Dis. 2020;7(2):109-117. doi: 10.3233/JND-200475. J Neuromuscul Dis. 2020. PMID: 32144995 Free PMC article.
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.
Vill K, Müller-Felber W, Gläser D, Kuhn M, Teusch V, Schreiber H, Weis J, Klepper J, Schirmacher A, Blaschek A, Wiessner M, Strom TM, Dräger B, Hofmeister-Kiltz K, Tacke M, Gerstl L, Young P, Horvath R, Senderek J. Vill K, et al. Among authors: glaser d. Hum Genet. 2018 Dec;137(11-12):911-919. doi: 10.1007/s00439-018-1952-6. Epub 2018 Nov 21. Hum Genet. 2018. PMID: 30460542
585 results