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Insulin secretory defects have been observed in carriers of HNF1A-MODY and GCK-MODY with and without diabetes [ 4, 5].
An inverse phenotype of underweight has been observed in carriers of duplications on chromosome 16p11.2, confirming a key role of this region in body weight regulation [ 96].
However, other tumor types, mainly breast cancer, have been observed in carriers of several unrelated kindreds, raising the possibility that the R337H mutation may also contribute to breast tumorigenesis in a genetic background-specific context.
However, TDP-43 proteinopathy has also been observed in carriers of mutations in several other genes associated with both ALS and FTLD demonstrating a key role for TDP-43 in neurodegeneration.
This phenomenon has also been observed in carriers of mutations associated with a mild PMD phenotype, 32, 33 and can be explained by random X-inactivation due to the mild effects of these mutations.
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Although this architecture is unprecedented among ion channels, it has been observed in carrier proteins in a range of organisms, and may indicate that Fluc proteins offer an evolutionary model for many carrier proteins.
Higher creativity scores were observed in carriers of the A1 allele.
A similar finding on mfERG testing was observed in carriers of X-linked retinitis pigmentosa [ 20].
Prominent psychotic symptoms were observed in carriers as early manifestations by Snowden and colleagues [ 4].
A trend of high FPG was observed in carriers of AC ((−866 A-55Ala) haplotype.
Lower IKZF3 levels were observed in carriers of the G allele which is predicted to create a miR-326 MRESS.
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