Amberger J - Search Results

1

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.

Hamosh A, Scott AF, Amberger J, Bocchini C, Valle D, McKusick VA. Hamosh A, et al. Among authors: amberger j. Nucleic Acids Res. 2002 Jan 1;30(1):52-5. doi: 10.1093/nar/30.1.52. Nucleic Acids Res. 2002. PMID: 11752252 Free PMC article.

2

Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.

Rosenfeld PJ, McKusick VA, Amberger JS, Dryja TP. Rosenfeld PJ, et al. Among authors: amberger js. J Med Genet. 1994 Dec;31(12):903-15. doi: 10.1136/jmg.31.12.903. J Med Genet. 1994. PMID: 7891370 Free PMC article. Review. No abstract available.

3

A gene map of congenital malformations.

Wilkie AO, Amberger JS, McKusick VA. Wilkie AO, et al. Among authors: amberger js. J Med Genet. 1994 Jul;31(7):507-17. doi: 10.1136/jmg.31.7.507. J Med Genet. 1994. PMID: 7966186 Free PMC article. Review.

4

The morbid anatomy of the human genome: chromosomal location of mutations causing disease (update 1 December 1993).

McKusick VA, Amberger JS. McKusick VA, et al. Among authors: amberger js. J Med Genet. 1994 Apr;31(4):265-79. doi: 10.1136/jmg.31.4.265. J Med Genet. 1994. PMID: 8071951 Free PMC article. Review. No abstract available.

5

The morbid anatomy of the human genome: chromosomal location of mutations causing disease.

McKusick VA, Amberger JS. McKusick VA, et al. Among authors: amberger js. J Med Genet. 1993 Jan;30(1):1-26. doi: 10.1136/jmg.30.1.1. J Med Genet. 1993. PMID: 8423603 Free PMC article. Review.

6

Progress in medical genetics: map-based gene discovery and the molecular pathology of skeletal dysplasias.

McKusick VA, Amberger JS, Francomano CA. McKusick VA, et al. Among authors: amberger js. Am J Med Genet. 1996 May 3;63(1):98-105. doi: 10.1002/(SICI)1096-8628(19960503)63:1<98::AID-AJMG19>3.0.CO;2-P. Am J Med Genet. 1996. PMID: 8723094 No abstract available.

7

Online Mendelian Inheritance in Man (OMIM).

Hamosh A, Scott AF, Amberger J, Valle D, McKusick VA. Hamosh A, et al. Among authors: amberger j. Hum Mutat. 2000;15(1):57-61. doi: 10.1002/(SICI)1098-1004(200001)15:1<57::AID-HUMU12>3.0.CO;2-G. Hum Mutat. 2000. PMID: 10612823

8

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.

Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA. Hamosh A, et al. Nucleic Acids Res. 2005 Jan 1;33(Database issue):D514-7. doi: 10.1093/nar/gki033. Nucleic Acids Res. 2005. PMID: 15608251 Free PMC article.

9

McKusick's Online Mendelian Inheritance in Man (OMIM).

Amberger J, Bocchini CA, Scott AF, Hamosh A. Amberger J, et al. Nucleic Acids Res. 2009 Jan;37(Database issue):D793-6. doi: 10.1093/nar/gkn665. Epub 2008 Oct 8. Nucleic Acids Res. 2009. PMID: 18842627 Free PMC article.

10

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®).

Amberger J, Bocchini C, Hamosh A. Amberger J, et al. Hum Mutat. 2011 May;32(5):564-7. doi: 10.1002/humu.21466. Epub 2011 Apr 5. Hum Mutat. 2011. PMID: 21472891

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