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Identification of deletions in the human low density lipoprotein receptor gene.
Horsthemke B, Dunning A, Humphries S. Horsthemke B, et al. J Med Genet. 1987 Mar;24(3):144-7. doi: 10.1136/jmg.24.3.144. J Med Genet. 1987. PMID: 3572996 Free PMC article.
Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome.
van der Werf IM, Buiting K, Czeschik C, Reyniers E, Vandeweyer G, Vanhaesebrouck P, Lüdecke HJ, Wieczorek D, Horsthemke B, Mortier G, Leroy JG, Kooy RF. van der Werf IM, et al. Among authors: horsthemke b. Eur J Hum Genet. 2016 Dec;24(12):1724-1729. doi: 10.1038/ejhg.2016.82. Epub 2016 Jul 13. Eur J Hum Genet. 2016. PMID: 27406249 Free PMC article.
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. Among authors: horsthemke b. 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.
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. Among authors: horsthemke b. 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.
Massive parallel bisulfite sequencing of CG-rich DNA fragments reveals that methylation of many X-chromosomal CpG islands in female blood DNA is incomplete.
Zeschnigk M, Martin M, Betzl G, Kalbe A, Sirsch C, Buiting K, Gross S, Fritzilas E, Frey B, Rahmann S, Horsthemke B. Zeschnigk M, et al. Among authors: horsthemke b. Hum Mol Genet. 2009 Apr 15;18(8):1439-48. doi: 10.1093/hmg/ddp054. Epub 2009 Feb 17. Hum Mol Genet. 2009. PMID: 19223391
Low frequency of imprinting defects in ICSI children born small for gestational age.
Kanber D, Buiting K, Zeschnigk M, Ludwig M, Horsthemke B. Kanber D, et al. Among authors: horsthemke b. Eur J Hum Genet. 2009 Jan;17(1):22-9. doi: 10.1038/ejhg.2008.177. Epub 2008 Oct 22. Eur J Hum Genet. 2009. PMID: 18941474 Free PMC article.
IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia.
Zeschnigk M, Albrecht B, Buiting K, Kanber D, Eggermann T, Binder G, Gromoll J, Prott EC, Seland S, Horsthemke B. Zeschnigk M, et al. Among authors: horsthemke b. Eur J Hum Genet. 2008 Mar;16(3):328-34. doi: 10.1038/sj.ejhg.5201974. Epub 2008 Jan 9. Eur J Hum Genet. 2008. PMID: 18159214
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