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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.
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.
Germline mutations in NF1 patients with malignancies.
Wu R, López-Correa C, Rutkowski JL, Baumbach LL, Glover TW, Legius E. Wu R, et al. Among authors: baumbach ll. Genes Chromosomes Cancer. 1999 Dec;26(4):376-80. Genes Chromosomes Cancer. 1999. PMID: 10534774
Practice parameter: corticosteroid treatment of Duchenne dystrophy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.
Moxley RT 3rd, Ashwal S, Pandya S, Connolly A, Florence J, Mathews K, Baumbach L, McDonald C, Sussman M, Wade C; Quality Standards Subcommittee of the American Academy of Neurology; Practice Committee of the Child Neurology Society. Moxley RT 3rd, et al. Among authors: baumbach l. Neurology. 2005 Jan 11;64(1):13-20. doi: 10.1212/01.WNL.0000148485.00049.B7. Neurology. 2005. PMID: 15642897
109 results