Publications
Filters: Author is Lochmüller, Hanns [Clear All Filters]
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage. Am J Hum Genet. 2023 ;110(4):681-690.
. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain. 2023 ;146(8):3273-3288.
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