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Null Hmx2 mutants develop abnormal vestibular apparatus; with inner ears entirely lacking semicircular canals, with fused utricles and saccules and a significant loss of vestibular sensory epithelium [ 54].
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Numerous transgenic, targeted mutagenesis (so-called 'knockouts'), conditional (so-called 'gene switch') and spontaneous mutant mice develop abnormal coat color phenotypes.
The relationship between abnormal FPG and abnormal OGTT to the development of type 2 diabetes still remains an open question because some individuals develop abnormal FPG without developing abnormal OGTT and vice versa (15).
Patients with nasopharyngeal carcinoma (NPC) sporadically develop abnormal adenoids.
The latter hypothesis was supported by one of the first published reports of TDP-43 mutations [ 34], where chick embryos transfected with TDP-43 mutant plasmids developed abnormal limb and tail buds and only 15%% reached the normal stage of maturation.
These mutants develop into morphologically normal adults.
She then developed abnormal muscle tone, and finally became unconscious.
Organs of both insertion mutants developed normally.
Transgenic mice expressing CMT type 1C-linked human SIMPLE mutant develop a late-onset motor and sensory neuropathy associated with abnormal myelin infolding, paranodal defects, and altered nodal organization (Lee et al., 2013).
A subset of these mutants simultaneously developed severe abnormal twisting of the trunk (∼70% of mice; Figure 1H).
The utrophin mutation in mdx∶utrophin chimeras appeared to affect the rescue process by the iPSCs, as the double mutant chimeras developed an abnormal fibrotic musculature.
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