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In this study, by combining medium-density SNP arrays and whole-genome sequencing (WGS) we identified a missense mutation in CLCN7 as responsible for a symptomology in newborn BBCB calves that encompasses abnormal skull formation and often gingival hamartomas and stillbirth.
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Rex fur in animals encompasses different abnormal hair coat phenotypes due to spontaneous or induced mutations.
The term patellofemoral instability encompasses several abnormal knee joint disorders, ranging from acute patellar luxation to chronic instability of the patella, to patellar decentration in the patellofemoral groove.
DNA samples determined to be abnormal by multiple SSCP analyses were amplified with the SSCP primers encompassing the abnormal region.
BMI was divided into normal or abnormal (encompassing both over- (>25 kgm) & under-weight (<18.5 kgm) groups) as only a very small number of participants were underweight which we took to represent poor health.
Tardive dyskinesia (TD) is a disabling and potentially irreversible motor complication encompassing all persistent, abnormal, involuntary hyperkinetic movements occurring in the setting of chronic therapy with dopamine receptor-blocking agents, such as antipsychotic drugs and metoclopramide [ 1].
In this work, the term debris encompasses lipofuscin-like bodies, late-stage lysosomes, abnormal glycogen and lipid deposits, and inclusions that show heterogeneous electron density.
Lobar frontotemporal degeneration (FTLD) encompasses a group of molecular disease defined by the deposition of an abnormal protein in the central nervous system.
On the basis of this search, we found that abnormal placentation, encompassing placenta accreta, increta, and percreta, is increasingly common.
Functional ROIs encompassed both FDG and ASL regional abnormal clusters at a liberal threshold (defined through SPM local maxima p < 0.05 uncorrected), ensuring a target region of adequate size.
In addition, the single copy loss for every individual encompasses at least 4 exons, which suggests that each deletion would result in an abnormal or non-functional APC protein.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com