Items where Author is "Bruel, A. L."
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Number of items: 2.
Article
(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)
(2023) The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain. pp. 3273-3288. ISSN 0006-8950