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1,073 results
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Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.
Horn D, Robinson PN. Horn D, et al. Am J Med Genet A. 2011 Apr;155A(4):721-4. doi: 10.1002/ajmg.a.33905. Epub 2011 Mar 15. Am J Med Genet A. 2011. PMID: 21594993
Pallister-Killian syndrome: normal karyotype in prenatal chorionic villi, in postnatal lymphocytes, and in slowly growing epidermal cells, but mosaic tetrasomy 12p in skin fibroblasts.
Horn D, Majewski F, Hildebrandt B, Körner H. Horn D, et al. J Med Genet. 1995 Jan;32(1):68-71. doi: 10.1136/jmg.32.1.68. J Med Genet. 1995. PMID: 7897632 Free PMC article.
Phenotype and counseling in lacrimo-auriculo-dento-digital (LADD) syndrome.
Horn D, Witkowski R. Horn D, et al. Genet Couns. 1993;4(4):305-9. Genet Couns. 1993. PMID: 8110420
Oto-palato-digital syndrome with features of type I and II in brothers.
Horn D, Nitz I, Bollmann R. Horn D, et al. Genet Couns. 1995;6(3):233-40. Genet Couns. 1995. PMID: 8588852
Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8.
Horn D, Robinson PN, Böddrich A, Buske A, Tinschert S, Nürnberg P. Horn D, et al. Electrophoresis. 1996 Oct;17(10):1559-63. doi: 10.1002/elps.1150171011. Electrophoresis. 1996. PMID: 8957181
Rare dental abnormalities seen in oculo-facio-cardio-dental (OFCD) syndrome: three new cases and review of nine patients.
Schulze BR, Horn D, Kobelt A, Tariverdian G, Stellzig A. Schulze BR, et al. Among authors: horn d. Am J Med Genet. 1999 Feb 19;82(5):429-35. doi: 10.1002/(sici)1096-8628(19990219)82:5<429::aid-ajmg13>;2-s. Am J Med Genet. 1999. PMID: 10069716 Review.
Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.
Horn D, Krebsová A, Kunze J, Reis A. Horn D, et al. Am J Med Genet. 2000 Jun 5;92(4):285-92. Am J Med Genet. 2000. PMID: 10842298
Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion.
Wieczorek D, Krause M, Majewski F, Albrecht B, Horn D, Riess O, Gillessen-Kaesbach G. Wieczorek D, et al. Among authors: horn d. Eur J Hum Genet. 2000 Jul;8(7):519-26. doi: 10.1038/sj.ejhg.5200498. Eur J Hum Genet. 2000. PMID: 10909852
Prenatal diagnosis in Coffin-Lowry syndrome demonstrates germinal mosaicism confirmed by mutation analysis.
Horn D, Delaunoy JP, Kunze J. Horn D, et al. Prenat Diagn. 2001 Oct;21(10):881-4. Prenat Diagn. 2001. PMID: 11746134
Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome.
Bürger J, Horn D, Tönnies H, Neitzel H, Reis A. Bürger J, et al. Among authors: horn d. Am J Med Genet. 2002 Aug 15;111(3):233-7. doi: 10.1002/ajmg.10498. Am J Med Genet. 2002. PMID: 12210318
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