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Items: 1 to 20 of 27

1.

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

Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA.

Nucleic Acids Res. 2005 Jan 1;33(Database issue):D514-7.

2.

[Application of Online Mendelian Inheritance in Man to medical genetics].

Hu YA, Cui YX.

Zhonghua Nan Ke Xue. 2011 Jul;17(7):639-43. Review. Chinese.

PMID:
21823350
3.

Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes.

Amberger JS, Hamosh A.

Curr Protoc Bioinformatics. 2017 Jun 27;58:1.2.1-1.2.12. doi: 10.1002/cpbi.27. Review.

PMID:
28654725
4.

V2R mutations and nephrogenic diabetes insipidus.

Bichet DG.

Prog Mol Biol Transl Sci. 2009;89:15-29. doi: 10.1016/S1877-1173(09)89002-9. Epub 2009 Oct 7. Review.

PMID:
20374732
5.

Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders.

Boyadjiev SA, Jabs EW.

Clin Genet. 2000 Apr;57(4):253-66. Review.

PMID:
10845565
6.

Bridging the gap between molecular genetics and metabolic medicine: access to genetic information.

Aymé S.

Eur J Pediatr. 2000 Dec;159 Suppl 3:S183-5. Review.

PMID:
11216896
7.

Internet resources for the clinical geneticist.

Ouellette F.

Clin Genet. 1999 Sep;56(3):179-85. Review.

PMID:
10563474
8.

Genetics of growth retardation.

Phillips JA 3rd.

J Pediatr Endocrinol Metab. 2004 Mar;17 Suppl 3:385-99. Review.

PMID:
15134299
9.

[Review on the research progress of mining of OMIM data].

Li J, Li Z, Kang Y, Li L.

Sheng Wu Yi Xue Gong Cheng Xue Za Zhi. 2014 Dec;31(6):1400-4. Review. Chinese.

PMID:
25868267
10.

Contribution of Mendelian disorders to common chronic disease: opportunities for recognition, intervention, and prevention.

Scheuner MT, Yoon PW, Khoury MJ.

Am J Med Genet C Semin Med Genet. 2004 Feb 15;125C(1):50-65. Review.

PMID:
14755434
11.

The importance of biological databases in biological discovery.

Baxevanis AD.

Curr Protoc Bioinformatics. 2006 Mar;Chapter 1:Unit 1.1. doi: 10.1002/0471250953.bi0101s13. Review.

PMID:
18428753
12.
13.

Human DNA repair genes, 2005.

Wood RD, Mitchell M, Lindahl T.

Mutat Res. 2005 Sep 4;577(1-2):275-83. Review.

PMID:
15922366
14.

Congenital diseases of the gastrointestinal tract.

Lentze M.

Georgian Med News. 2014 May;(230):46-53. Review.

PMID:
24940857
15.

Automated extraction of information in molecular biology.

Andrade MA, Bork P.

FEBS Lett. 2000 Jun 30;476(1-2):12-7. Review.

16.

General mutation databases: analysis and review.

George RA, Smith TD, Callaghan S, Hardman L, Pierides C, Horaitis O, Wouters MA, Cotton RG.

J Med Genet. 2008 Feb;45(2):65-70. Epub 2007 Sep 24. Review.

17.

Genetics of human isolated hereditary nail disorders.

Khan S, Basit S, Habib R, Kamal A, Muhammad N, Ahmad W.

Br J Dermatol. 2015 Oct;173(4):922-9. doi: 10.1111/bjd.14023. Epub 2015 Sep 8. Review.

PMID:
26149975
18.

A gene map of congenital malformations.

Wilkie AO, Amberger JS, McKusick VA.

J Med Genet. 1994 Jul;31(7):507-17. Review.

19.

Relevance of the Human Genome Project to inherited metabolic disease.

Burn J.

J Inherit Metab Dis. 1994;17(4):421-9. Review.

PMID:
7967492
20.

Genetic architecture for human aggression: A study of gene-phenotype relationship in OMIM.

Zhang-James Y, Faraone SV.

Am J Med Genet B Neuropsychiatr Genet. 2016 Jul;171(5):641-9. doi: 10.1002/ajmg.b.32363. Epub 2015 Aug 19. Review.

PMID:
26288127

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