AI Networking Cookbook: Practical recipes for AI-assisted network automation and development
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Spadmiss with basal ganglia calcification and multilocus genetic disease: a novel phenotypic expansion
A 5.5-year-old girl born to consanguineous parents who presented with refractory early-onset seizures, severe global developmental delay, growth failure, and microcephaly is described, highlighting the critical role of whole-exome sequencing in accurately delineating complex phenotypes in consanguineous populations.