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Clinical and Experimental Rheumatology|July 8, 2024
Monogenic interferon-mediated diseases: novel phenotype and genotype characteristics from a Saudi populationAlHanouf Al-Saleem, Shahad Alansari, Mohammed Almuhaizea, et al.
American Journal of Medical Genetics. Part A|December 22, 2023
Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophyRuqaiah Altassan, Hanan AlQudairy, Sarah AlJebreen, et al.
Scientific Reports|July 15, 2026
MORF4L1, encoding a chromatin remodeler, is mutated in a recognizable dysmorphic neurodevelopmental disorderHanan E Shamseldin, Dana Marafi, Mohammed AlMuhaizea, et al.
Acta Neuropathologica|April 29, 2023
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical modelRuizhi Deng, Eva Medico-Salsench, Anita Nikoncuk, et al.
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