7 results for author:"Deburgrave N." in Literature citations
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| Miyoshi-like distal myopathy with mutations in anoctamin 5 gene. Bouquet F., Cossee M., Behin A., Deburgrave N., Romero N., Leturcq F., Eymard B. Rev. Neurol. (Paris) 168:135-141(2012) · Mapped (1) |
| Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression. Daoud F., Angeard N., Demerre B., Martie I., Benyaou R., Leturcq F., Cossee M., Deburgrave N., Saillour Y., Tuffery S. et al. Hum. Mol. Genet. 18:3779-3794(2009) · Mapped (67) |
| Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism? Ben Yaou R., Toutain A., Arimura T., Demay L., Massart C., Peccate C., Muchir A., Llense S., Deburgrave N., Leturcq F. et al. Neurology 68:1883-1894(2007) · Mapped (10) |
| Prenatal diagnosis of recessive congenital methaemoglobinaemia type II: novel mutation in the NADH-cytochrome b5 reductase gene leading to stop codon read-through. Leroux A., Leturcq F., Deburgrave N., Szajnert M.F. Eur. J. Haematol. 74:389-395(2005) · Mapped (4) |
| Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene. Beroud C., Carrie A., Beldjord C., Deburgrave N., Llense S., Carelle N., Peccate C., Cuisset J.M., Pandit F., Carre-Pigeon F. et al. Neuromuscul. Disord. 14:10-18(2004) · Mapped (67) |
| A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey. Dincer P., Leturcq F., Richard I., Piccolo F., Yalnizoglu D., de Toma C., Akcoeren Z., Broux O., Deburgrave N., Brenguier L. et al. Ann. Neurol. 42:222-229(1997) · UniProtKB (1) |
| A novel mutation (Arg-->Leu in exon 18) in factor VIII gene responsible for moderate hemophilia A. Nafa K., Baudis M., Deburgrave N., Bardin J.M., Sultan Y., Kaplan J.C., Delpech M. Hum. Mutat. 1:77-78(1992) · UniProtKB (1) |