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Beckwith-Wiedemann syndrome: difficulties with prenatal diagnosis.
Beckwith-Wiedemann syndrome (BWS), though a well-delineated clinical and morphological entity, can be difficult to diagnose by prenatal ultrasound examination when incomplete forms occur. We presentExpand
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Possibilities and limitations of carrier diagnosis in families with Duchenne muscular dystrophy caused by deletions in the major hot spot region using pulsed-field gel electrophoresis.
The cDNA probes cf56a, b identify deletions in 45% of the investigated patients with Duchenne and Becker muscular dystrophy (DMD/BMD). But carrier detection by junction fragments using normal gelExpand
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Prenatal diagnosis of the acute form of proximal spinal muscular atrophy: Experience on the acceptance of linkage analyses by the families
The acute form of proximal spinal muscular atrophy (SMA) is a severe autosomal recessive inherited neuromuscular disorder. It has been mapped to chromosome 5q 11.2‐13.3. Using restriction fragmentExpand
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EIGHTEEN YARDS AND NINE METRES
Abstract This article presents the descriptions and definitive equivalent lengths in international metres of eighteen different yards and nine different metres which are (or once were) ofExpand
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THE BIRD YARD PARLIAMENTARY STANDARD
Abstract This article presents a definitive determination of the thermal expansion and length at standard temperature (62°F) of the Bird Yard (1760) Parliamentary Standard (P2),legal standard ofExpand
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WINTERBOTHAM WAS RIGHT!
Abstract Winterbotham was fully justified in his assumption that the Ordnance Survey standard bar OI1 has not changed its length between 1864 and 1906. That being the case, accurate metricExpand
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THE TUBULAR BRASS SCALES
Abstract This article presents new detenninations of the thermal expansion of the tubular brass standard scale of the Royal Astronomical Society (A1) and of its copies D (A2) and R (A3), of theExpand
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THE SHUCKBURGH SCALE
Abstract Airy stated unequivocally that the dimensions of his Figure of the Earth, better known as the Airy 1830 ellipsoid, were given in “leet of the Shuckburgh standard”, further interpreted asExpand
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