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Results: 5

1.

Biophysical characterisation of calumenin as a charged F508del-CFTR folding modulator.

Tripathi R, Benz N, Culleton B, Trouvé P, Férec C.

PLoS One. 2014 Aug 13;9(8):e104970. doi: 10.1371/journal.pone.0104970. eCollection 2014.

PMID:
25120007
[PubMed - in process]
Free PMC Article
2.
3.

Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

Castellani C, Cuppens H, Macek M Jr, Cassiman JJ, Kerem E, Durie P, Tullis E, Assael BM, Bombieri C, Brown A, Casals T, Claustres M, Cutting GR, Dequeker E, Dodge J, Doull I, Farrell P, Ferec C, Girodon E, Johannesson M, Kerem B, Knowles M, Munck A, Pignatti PF, Radojkovic D, Rizzotti P, Schwarz M, Stuhrmann M, Tzetis M, Zielenski J, Elborn JS.

J Cyst Fibros. 2008 May;7(3):179-96. doi: 10.1016/j.jcf.2008.03.009. Review.

PMID:
18456578
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Linkage disequilibrium patterns and tagSNP transferability among European populations.

Mueller JC, Lõhmussaar E, Mägi R, Remm M, Bettecken T, Lichtner P, Biskup S, Illig T, Pfeufer A, Luedemann J, Schreiber S, Pramstaller P, Pichler I, Romeo G, Gaddi A, Testa A, Wichmann HE, Metspalu A, Meitinger T.

Am J Hum Genet. 2005 Mar;76(3):387-98. Epub 2005 Jan 6.

PMID:
15637659
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Bayesian risk assessment for autosomal recessive diseases: fetal echogenic bowel with one or no detectable CFTR mutation.

Ogino S, Wilson RB, Grody WW.

J Med Genet. 2004 May;41(5):e70. No abstract available.

PMID:
15121798
[PubMed - indexed for MEDLINE]
Free PMC Article
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