Exact(1)
From the early descriptions, electroretinography [37] analysis demonstrated photoreceptor dysfunction that was initially attributed to a primary RPE abnormality, since the hyperfluorescent FA pattern in MEWDS was interpreted as an RPE window defect [38].
Similar(59)
In contrast to the in silico splicing data, c.5153G>C/p.Trp1718Ser (Fig. 2c) did not show any splicing abnormality since both the wild-type BRCA1 exon 19 and the c.5153G>C/p.Trp1718Ser variant generated one strong band at the expected size of 218 bp containing exon 19.
In vitro fertilization of hamster eggs with human sperm has been used to study human chromosome abnormalities since the early 1980s.
These gene candidates, when knocked down, likely result in severe cardiac functional abnormalities since the Drosophila heart can be dramatically altered and not necessarily initiate organismal death.
Typically, defects in synapse formation and synaptic growth are linked to cytoskeleton abnormalities, since the synaptic boutons and the newly formed buds require the underlying presynaptic microtubules to maintain their structural organization and plasticity inside the innervated muscles.
Any clinically significant new abnormalities since the last report were reported as adverse events.
As expected, retrospective analysis of the foetus's karyotype could not detect any of the abnormalities, since the imbalances (1.35 Mb and 1.95 Mb) were beyond the resolution of the karyotype.
The identities of the proteins matched in the database pointed to a metabolic rather than inflammatory abnormality since none of the protein identities had apparent inflammatory function.
However, the 4.6 kb fragment was found exclusively in plants with some type of flower abnormality, since it was only seen in abnormal plants 19.3, 9, 03, 13.2 and in the intermediate plant 6.
The outcome of this stage in Figure 1 indicates the left cluster in Figure 1f as the abnormality cluster since all the containing features belong to the abnormal signal.
The major underlying aetiology of SVI/BL was undetermined in 56.9% (mainly cataract and abnormality since birth) and perinatal factors 21.5% (mainly retinopathy of prematurity (ROP)).
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