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Publications scientifiques

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Segmental and total uniparental isodisomy (upid) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from snp arrays... We identified one case of total uniparental disomy(UPD) of chromosome 17 leading to Pompe disease and three cases of segmental uniparental isodisomy (UPiD) causingHurler-(4p) or Pompe disease (17q)....

général - core.ac.uk - PDF: repub.eur.nl

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Supplementary material for: classification of uniparental isodisomy patterns that cause autosomal recessive disorders: proposed mechanisms of different proportions and parental origin in each pattern... However, in some instances only one of the parents is a carrier and a mutation is segregated to the patient through uniparental isodisomy (UPiD)....

général - core.ac.uk - PDF: figshare.com

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Simplified isoelectric focusing/lmmunoblothng determination of... (J Upid Res 1988;29:1535-43), 10-tL plasma samples are incubated with dithiothreitoland Tween-20 for 15 mm and then applied to 5 % polyacrylamide gels containing ampholyte (pH 4.5-8)...

général - core.ac.uk - PDF: www.clinchem.org

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Soft real-time pid control on a vme computermicroPID (uPID) is a computer program for real-time proportional + integral + derivative (PID) control of a translation stage in a Fourier-transform ultraviolet spectrometer....

général - core.ac.uk - PDF: hdl.handle.net

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Effect of oxygen hyperbaric therapy on malondialdehyde levels in saliva of periodontitis patients with type 2 diabetes mellitus... Malondialdehyde (MDA) is end products of upid peroxidation....

général - core.ac.uk - PDF: doaj.org