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Apart from cerebral and cardiovascular developmental defects FLNA mutations can also cause connective tissue abnormalities, and autopsy studies show abnormal glomeruloid microvascular proliferations in the brain [ 9, 15].
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This discrepancy has been supported by recent neuroimaging studies showing abnormal activity in RD during semantic processing in the visual but not in the auditory modality.
Electron microscopic studies showed abnormal lens suture formation and incomplete karyolysis (that is, denucleation) of lens fiber cells.
Colloidal lanthanum perfusion studies showed abnormal movement of tracer into the extracellular spaces of the stratum corneum consistent with a leaky water barrier.
This corroborates findings from postmortem studies showing abnormal intraneuronal mitochondrial distribution in the brains of AD patients (Wang et al, 2009).
Atypical processing of direct gaze in ASC is further underlined by electrophysiological studies showing abnormal event-related potentials to direct gaze in children with autism (Grice et al. 2005; Senju et al. 2005) and infant siblings of children with autism (Elsabbagh et al. 2009, 2012).
Subsequent MRI study showed abnormal signal intensity in the bone: a low T1WI signal (b) and T2FS WI hyperintense lesion (c) related to a bone lymphoma Open image in new window Fig. 5 A 28-year-old patient with a testicular neoplasm and spinal metastases.
The [I]-MIBG study showed abnormal radiotracer uptake in the left adrenal and liver.
Some cloned piglets in our study showed abnormal phenotypes such as large tongue (longer and thicker), weak muscles, and exomphalos.
To conclude, this study showed abnormal neural mechanisms of involuntary attention in 2-year-old children with RAOM.
A representative study showing abnormal repetitive CMAPs from a patient tested 46 hours after treatment with oxaliplatin is shown in Fig2B.
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