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De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder.
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Dystonia genes and their biological pathways.
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Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
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Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes.
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Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.
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Smirnov, Dmitrii;Konstantinovskiy, Nikita;Prokisch, Holger
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FOXD2 DYSFUNCTION IS IMPLICATED IN SYNDROMIC CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT (CAKUT)
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A burning question from the first international BPAN symposium: is restoration of autophagy a promising therapeutic strategy for BPAN?
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