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328 results
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A comprehensive review of genetic association studies.
Hirschhorn JN, Lohmueller K, Byrne E, Hirschhorn K. Hirschhorn JN, et al. Among authors: hirschhorn k. Genet Med. 2002 Mar-Apr;4(2):45-61. doi: 10.1097/00125817-200203000-00002. Genet Med. 2002. PMID: 11882781 Review.
Clinical and molecular studies in full trisomy 22: further delineation of the phenotype and review of the literature.
Hirschhorn K. Hirschhorn K. Am J Med Genet. 1996 Mar 1;62(1):98-9. doi: 10.1002/(SICI)1096-8628(19960301)62:1<98::AID-AJMG19>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8779334 No abstract available.
Duty to re-contact.
Hirschhorn K, Fleisher LD, Godmilow L, Howell RR, Lebel RR, McCabe ER, McGinniss MJ, Milunsky A, Pelias MZ, Pyeritz RE, Sujansky E, Thompson BH, Zinberg RE. Hirschhorn K, et al. Genet Med. 1999 May-Jun;1(4):171-2. doi: 10.1097/00125817-199905000-00010. Genet Med. 1999. PMID: 11258354 No abstract available.
Paternal uniparental disomy for chromosome 14: a case report and review.
Cotter PD, Kaffe S, McCurdy LD, Jhaveri M, Willner JP, Hirschhorn K. Cotter PD, et al. Among authors: hirschhorn k. Am J Med Genet. 1997 May 2;70(1):74-9. doi: 10.1002/(sici)1096-8628(19970502)70:1<74::aid-ajmg14>;2-u. Am J Med Genet. 1997. PMID: 9129745 Review.
Mosaic trisomy 22: a case presentation and literature review of trisomy 22 phenotypes.
Hirschhorn K. Hirschhorn K. Am J Med Genet. 1998 Apr 13;76(5):447. doi: 10.1002/(sici)1096-8628(19980413)76:5<447::aid-ajmg15>;2-m. Am J Med Genet. 1998. PMID: 9556307 No abstract available.
Paternal trisomy 21 mosaicism and Down's syndrome.
Hsu LY, Gertner M, Leiter E, Hirschhorn K. Hsu LY, et al. Among authors: hirschhorn k. Am J Hum Genet. 1971 Nov;23(6):592-601. Am J Hum Genet. 1971. PMID: 4257130 Free PMC article. No abstract available.
Trisomy 18.
Kardon N, Hsu LY, Beratis N, Hirschhorn K. Kardon N, et al. Among authors: hirschhorn k. Lancet. 1970 Oct 10;2(7676):782. doi: 10.1016/s0140-6736(70)90272-2. Lancet. 1970. PMID: 4196013 No abstract available.
Delineation of the dup5q phenotype by molecular cytogenetic analysis in a patient with dup5q/del 5p (cri du chat).
Levy B, Dunn TM, Kern JH, Hirschhorn K, Kardon NB. Levy B, et al. Among authors: hirschhorn k. Am J Med Genet. 2002 Mar 15;108(3):192-7. doi: 10.1002/ajmg.10261. Am J Med Genet. 2002. PMID: 11891684 Review.
Chromosome 13q neocentromeres: molecular cytogenetic characterization of three additional cases and clinical spectrum.
Li S, Malafiej P, Levy B, Mahmood R, Field M, Hughes T, Lockhart LH, Wu Z, Huang M, Hirschhorn K, Velagaleti GV, Daniel A, Warburton PE. Li S, et al. Among authors: hirschhorn k. Am J Med Genet. 2002 Jul 1;110(3):258-67. doi: 10.1002/ajmg.10454. Am J Med Genet. 2002. PMID: 12116235
Multiple hemangiomas in a patient with a t(3q;4p) translocation: an infrequent association with Wolf-Hirschhorn syndrome.
Pardo S, Blitman N, Han B, Cohen N, Edelmann L, Hirschhorn K. Pardo S, et al. Among authors: hirschhorn k. Am J Med Genet A. 2008 Jan 15;146A(2):219-24. doi: 10.1002/ajmg.a.32033. Am J Med Genet A. 2008. PMID: 18076104
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