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Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.
Nat Genet. 2006 Nov;38(11):1242-4. doi: 10.1038/ng1893. Epub 2006 Oct 1.
Nat Genet. 2006.
PMID: 17013395
Free PMC article.
Low prevalence of MYOC mutations in UK primary open-angle glaucoma patients limits the utility of genetic testing.
Aldred MA, Baumber L, Hill A, Schwalbe EC, Goh K, Karwatowski W, Trembath RC.
Aldred MA, et al. Among authors: baumber l.
Hum Genet. 2004 Oct;115(5):428-31. doi: 10.1007/s00439-004-1171-1. Epub 2004 Aug 25.
Hum Genet. 2004.
PMID: 15338275
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A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.
Morgan NV, Gissen P, Sharif SM, Baumber L, Sutherland J, Kelly DA, Aminu K, Bennett CP, Woods CG, Mueller RF, Trembath RC, Maher ER, Johnson CA.
Morgan NV, et al. Among authors: baumber l.
Hum Genet. 2002 Oct;111(4-5):456-61. doi: 10.1007/s00439-002-0817-0. Epub 2002 Sep 7.
Hum Genet. 2002.
PMID: 12384791
Free article.
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Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism.
Baumber L, Tufarelli C, Patel S, King P, Johnson CA, Maher ER, Trembath RC.
Baumber L, et al.
J Med Genet. 2005 May;42(5):443-8. doi: 10.1136/jmg.2004.026898.
J Med Genet. 2005.
PMID: 15863676
Free PMC article.
No abstract available.
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A genome-wide scan and HCRTR2 candidate gene analysis in a European cluster headache cohort.
Baumber L, Sjöstrand C, Leone M, Harty H, Bussone G, Hillert J, Trembath RC, Russell MB.
Baumber L, et al.
Neurology. 2006 Jun 27;66(12):1888-93. doi: 10.1212/01.wnl.0000219765.95038.d7.
Neurology. 2006.
PMID: 16801656
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Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis.
Capon F, Di Meglio P, Szaub J, Prescott NJ, Dunster C, Baumber L, Timms K, Gutin A, Abkevic V, Burden AD, Lanchbury J, Barker JN, Trembath RC, Nestle FO.
Capon F, et al. Among authors: baumber l.
Hum Genet. 2007 Sep;122(2):201-6. doi: 10.1007/s00439-007-0397-0. Epub 2007 Jun 22.
Hum Genet. 2007.
PMID: 17587057
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