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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

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Raghad Waheed Khanfar

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Review Open access Sep 2026

Recurrent homozygous GLRB p.Arg472Ter variant in Palestinian hereditary hyperekplexia: a retrospective genotype–phenotype case series of nine children

Hereditary hyperekplexia is a treatable neurogenetic disorder of impaired glycinergic inhibition that may present neonatally with exaggerated startle, generalized stiffness, and life-threatening tonic apneic spells. Data from Palestine remain limited. We aimed to describe the clinical spectrum, molecular findings...

Samir A. Nasser, O. Salah, Majd Shehadeh et al. · 0 citations

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