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(2022) Biallelic variants in <i>ZNF142</i> lead to a syndromic neurodevelopmental disorder. Clinical Genetics. pp. 98-109. ISSN 0009-9163
(2022) <i>GGPS1</i>-associated muscular dystrophy with and without hearing loss. Annals of Clinical and Translational Neurology. pp. 1465-1474. ISSN 2328-9503