Items where Author is "Efthymiou, S."
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(2025) Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum. Genetics in Medicine. p. 23. ISSN 1098-3600
(2025) Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders. Genetics in medicine : official journal of the American College of Medical Genetics. p. 101251. ISSN 1530-0366 (Electronic) 1098-3600 (Linking)
(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.
(2023) The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain. pp. 3273-3288. ISSN 0006-8950