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Clinical utility gene card for: Angelman Syndrome.
Buiting K, Clayton-Smith J, Driscoll DJ, Gillessen-Kaesbach G, Kanber D, Schwinger E, Williams C, Horsthemke B. Buiting K, et al. Eur J Hum Genet. 2015 Feb;23(2). doi: 10.1038/ejhg.2014.93. Epub 2014 Jun 4. Eur J Hum Genet. 2015. PMID: 24896151 Free PMC article. No abstract available.
SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome.
Runte M, Kroisel PM, Gillessen-Kaesbach G, Varon R, Horn D, Cohen MY, Wagstaff J, Horsthemke B, Buiting K. Runte M, et al. Among authors: buiting k. Hum Genet. 2004 May;114(6):553-61. doi: 10.1007/s00439-004-1104-z. Epub 2004 Mar 10. Hum Genet. 2004. PMID: 15014980
Clinical utility gene card for: Prader-Willi Syndrome.
Buiting K, Cassidy SB, Driscoll DJ, Gillessen-Kaesbach G, Kanber D, Tauber M, Schwinger E, Horsthemke B. Buiting K, et al. Eur J Hum Genet. 2014 Sep;22(9). doi: 10.1038/ejhg.2014.66. Epub 2014 Apr 16. Eur J Hum Genet. 2014. PMID: 24736734 Free PMC article. No abstract available.
New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome.
Beygo J, Küchler A, Gillessen-Kaesbach G, Albrecht B, Eckle J, Eggermann T, Gellhaus A, Kanber D, Kordaß U, Lüdecke HJ, Purmann S, Rossier E, van de Nes J, van der Werf IM, Wenzel M, Wieczorek D, Horsthemke B, Buiting K. Beygo J, et al. Among authors: buiting k. Eur J Hum Genet. 2017 Aug;25(8):935-945. doi: 10.1038/ejhg.2017.91. Epub 2017 Jun 21. Eur J Hum Genet. 2017. PMID: 28635951 Free PMC article.
141 results