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Results: 5

1.

PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing.

Fernandes PH, Wen S, Sutton VR, Ward PA, Van den Veyver IB, Fang P.

Genet Test Mol Biomarkers. 2010 Oct;14(5):709-13. doi: 10.1089/gtmb.2010.0089. Epub 2010 Sep 20.

PMID:
20854095
[PubMed - indexed for MEDLINE]
2.

Mutation update for the PORCN gene.

Lombardi MP, Bulk S, Celli J, Lampe A, Gabbett MT, Ousager LB, van der Smagt JJ, Soller M, Stattin EL, Mannens MA, Smigiel R, Hennekam RC.

Hum Mutat. 2011 Jul;32(7):723-8. doi: 10.1002/humu.21505. Epub 2011 Jun 21. Review.

PMID:
21472892
[PubMed - indexed for MEDLINE]
3.

The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.

Jensen HK.

Dan Med Bull. 2002 Nov;49(4):318-45. Review.

PMID:
12553167
[PubMed - indexed for MEDLINE]
4.

Novel genomic techniques open new avenues in the analysis of monogenic disorders.

Kuhlenbäumer G, Hullmann J, Appenzeller S.

Hum Mutat. 2011 Feb;32(2):144-51. doi: 10.1002/humu.21400. Review.

PMID:
21280146
[PubMed - indexed for MEDLINE]
5.

[Goltz syndrome].

Ishikawa O.

Nihon Rinsho. 2006 Sep 28;Suppl 3:422-5. Review. Japanese. No abstract available.

PMID:
17022579
[PubMed - indexed for MEDLINE]

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