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The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.
Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, Barash M, Shemesh M, Sadeh M, Grabov-Nardini G, Shmilevich I, Friedmann A, Karpati G, Bradley WG, Baumbach L, Lancet D, Asher EB, Beckmann JS, Argov Z, Mitrani-Rosenbaum S. Eisenberg I, et al. Among authors: baumbach l. Nat Genet. 2001 Sep;29(1):83-7. doi: 10.1038/ng718. Nat Genet. 2001. PMID: 11528398
Homozygosity mapping to the USH2A locus in two isolated populations.
Fagerheim T, Raeymaekers P, Merren J, Mani K, Jha GK, Baumbach L, Brox V, Breines E, Holdø BE, Holdø A, Tranebjaerg L. Fagerheim T, et al. Among authors: baumbach l. J Med Genet. 1999 Feb;36(2):144-7. J Med Genet. 1999. PMID: 10051015 Free PMC article.
Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia.
McCabe ER, Towbin J, Chamberlain J, Baumbach L, Witkowski J, van Ommen GJ, Koenig M, Kunkel LM, Seltzer WK. McCabe ER, et al. Among authors: baumbach l. J Clin Invest. 1989 Jan;83(1):95-9. doi: 10.1172/JCI113890. J Clin Invest. 1989. PMID: 2536049 Free PMC article.
Evidence for a BRCA1 founder mutation in families of West African ancestry.
Mefford HC, Baumbach L, Panguluri RC, Whitfield-Broome C, Szabo C, Smith S, King MC, Dunston G, Stoppa-Lyonnet D, Arena F. Mefford HC, et al. Among authors: baumbach l. Am J Hum Genet. 1999 Aug;65(2):575-8. doi: 10.1086/302511. Am J Hum Genet. 1999. PMID: 10417303 Free PMC article. No abstract available.
109 results