Items where Author is "Alkuraya, F. S."
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Article
(2025) Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum. Genetics in Medicine. p. 23. ISSN 1098-3600
(2024) Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders. medRxiv : the preprint server for health sciences.
(2024) The immunopathological landscape of human pre-TCRa deficiency: From rare to common variants. Science. ISSN 00368075 (ISSN)
(2024) The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants. Science. p. 19. ISSN 0036-8075