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Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1250
Abstract: To investigate the relationships among phenotypes, genotypes, and funotypes of SCN2A‐related developmental epileptic encephalopathy (DEE).
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Keywords:
epileptic encephalopathy;
features next;
precise step;
electrophysiological features ... See more keywords
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Published in 2020 at "Journal of Endocrinological Investigation"
DOI: 10.1007/s40618-020-01343-0
Abstract: Background Acromegaly is disease associated with a specific cardiomyopathy. Hitherto, it has been widely understood that acromegaly carries an increased risk of arrhythmia. Purpose In this review we show that evidences are limited to a…
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Keywords:
arrhythmia;
risk;
heart rate;
electrophysiological features ... See more keywords
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Published in 2021 at "Frontiers in Human Neuroscience"
DOI: 10.3389/fnhum.2021.684950
Abstract: The complete understanding of the mammalian brain requires exact knowledge of the function of each neuron subpopulation composing its parts. To achieve this goal, an exhaustive, precise, reproducible, and robust neuronal taxonomy should be defined.…
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Keywords:
taxonomy;
transcriptomic features;
cre lines;
electrophysiological features ... See more keywords