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689 results

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A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22-24.
Van Den Bogaert K, De Leenheer EM, Chen W, Lee Y, Nürnberg P, Pennings RJ, Vanderstraeten K, Thys M, Cremers CW, Smith RJ, Van Camp G. Van Den Bogaert K, et al. Among authors: nurnberg p. J Med Genet. 2004 Jun;41(6):450-3. doi: 10.1136/jmg.2004.018671. J Med Genet. 2004. PMID: 15173231 Free PMC article. No abstract available.
A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3.
Ruf RG, Berkman J, Wolf MT, Nurnberg P, Gattas M, Ruf EM, Hyland V, Kromberg J, Glass I, Macmillan J, Otto E, Nurnberg G, Lucke B, Hennies HC, Hildebrandt F. Ruf RG, et al. Among authors: nurnberg p, nurnberg g. J Med Genet. 2003 Jul;40(7):515-9. doi: 10.1136/jmg.40.7.515. J Med Genet. 2003. PMID: 12843324 Free PMC article. No abstract available.
Refinement of the DFNA4 locus to a 1.44 Mb region in 19q13.33.
Pusch CM, Meyer B, Kupka S, Smith RJ, Lalwani AK, Zenner HP, Blin N, Nürnberg P, Pfister M. Pusch CM, et al. Among authors: nurnberg p. J Mol Med (Berl). 2004 Jun;82(6):398-402. doi: 10.1007/s00109-004-0538-z. Epub 2004 Mar 24. J Mol Med (Berl). 2004. PMID: 15042303
Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36.
Thiele H, McCann C, van't Padje S, Schwabe GC, Hennies HC, Camera G, Opitz J, Laxova R, Mundlos S, Nürnberg P. Thiele H, et al. Among authors: nurnberg p. J Med Genet. 2004 Mar;41(3):213-8. doi: 10.1136/jmg.2003.014894. J Med Genet. 2004. PMID: 14985386 Free PMC article. No abstract available.
Refinement of the chromosome 5p locus for craniometaphyseal dysplasia.
Chandler D, Tinschert S, Lohan K, Harrop K, Goldblatt J, Nagy M, Hummel S, Braun HS, Laing N, Nürnberg P. Chandler D, et al. Among authors: nurnberg p. Hum Genet. 2001 May;108(5):394-7. doi: 10.1007/s004390100515. Hum Genet. 2001. PMID: 11409866
Missense mutations of ACTA1 cause dominant congenital myopathy with cores.
Kaindl AM, Rüschendorf F, Krause S, Goebel HH, Koehler K, Becker C, Pongratz D, Müller-Höcker J, Nürnberg P, Stoltenburg-Didinger G, Lochmüller H, Huebner A. Kaindl AM, et al. Among authors: nurnberg p. J Med Genet. 2004 Nov;41(11):842-8. doi: 10.1136/jmg.2004.020271. J Med Genet. 2004. PMID: 15520409 Free PMC article. No abstract available.
689 results