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Pulmonary function tests revealed restrictive lung defect characterised by reduced vital capacity and lung diffusing capacity.
The SLC36A2 (PAT2) gene was identified as the major gene responsible for iminoglycinuria, a renal defect characterised by reduced reabsorption of glycine, proline and hydroxyproline (Online Mendelian Inheritance in Man, OMIM: 242600).
The three patients had moderate intellectual disability (IQ of <50), gross motor delay and a severe speech and language defect, characterised by a delay in the onset of speech, dysgrammatism and very poor speech articulation.
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Other likely genetic defects characterised by hydrocephalus such as two distinct syndromes in Hereford cattle have been reported in older literature [ 100].
We present here measurements on defects with varied branched geometries, designed to simulate stress corrosion cracking (SCC) type defects, characterising the geometry using laser-based ultrasonic generation and detection of Rayleigh waves.
When changes were no longer detectable in or near the location of a defect in the preceding scan, the defect was characterised as "resolved".
A multiaxial endurance criterion is used to analyse the experimental results: it appears necessary to calculate the local stress distribution around the defect to characterise the defect morphology in a multiaxial criterion.
The monocyte defect was characterised by a disproportionate loss of Ly6C+ inflammatory monocytes [13], implying that Slfn2 is required for the maturation and/or survival of this monocyte sub-set.
Molecular mechanism of FARS2 defect is characterised in vitro.
When similar changes were detected in a matching location in subsequent available scans, the defect was characterised as "persisting".
The defects are characterised in terms of energy levels, effectiveness, and concentration.
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CEO of Professional Science Editing for Scientists @ prosciediting.com