Repository of Research and Investigative Information
Shahid Sadoughi University of Medical Sciences
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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) Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. Clinical Genetics. pp. 98-109.
(2018) Recessive mutations in <i>ATP8A2</i> cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy. Orphanet Journal of Rare Diseases. p. 10.