Amberger JS - Search Results

1

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.

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

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.

6

Online Mendelian Inheritance in Man (OMIM).

Hamosh A, Scott AF, Amberger J, Valle D, McKusick VA. Hamosh A, et al. 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

7

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. 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.

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. Among authors: amberger js. 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

Viewing Victor McKusick's legacy through the lens of his bibliography.

Rasmussen SA, Pomputius A, Amberger JS, Hamosh A. Rasmussen SA, et al. Among authors: amberger js. Am J Med Genet A. 2021 Nov;185(11):3212-3223. doi: 10.1002/ajmg.a.62394. Epub 2021 Jun 23. Am J Med Genet A. 2021. PMID: 34159717 Free PMC article.

10

Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus.

Hamosh A, Amberger JS, Bocchini C, Scott AF, Rasmussen SA. Hamosh A, et al. Among authors: amberger js. Am J Med Genet A. 2021 Nov;185(11):3259-3265. doi: 10.1002/ajmg.a.62407. Epub 2021 Jun 24. Am J Med Genet A. 2021. PMID: 34169650 Free PMC article.

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