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De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder.
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Di Fonzo, Alessio;Jinnah, H A;Zech, Michael
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Brechtmann, Felix;Bechtler, Thibault;Londhe, Shubhankar;Mertes, Christian;Gagneur, Julien
Evaluation of input data modality choices on functional gene embeddings.
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Schlieben, Lea D;Prokisch, Holger
Genetics of mitochondrial diseases: Current approaches for the molecular diagnosis.
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Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
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Indelicato, Elisabetta;Boesch, Sylvia;Havrankova, Petra;Příhodová, Iva;Winkelmann, Juliane;Jech, Robert;Zech, Michael
SOXopathies and dystonia: Consolidation of a recurrent association.
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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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Deltas, Constantinos;Papagregoriou, Gregory;Louka, Stavroula F;Malatras, Apostolos;Flinter, Frances;Gale, Daniel P;Gear, Susie;Gross, Oliver;Hoefele, Julia;Lennon, Rachel;Miner, Jeffrey H;Renieri, Alessandra;Savige, Judy;Turner, A Neil
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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38 Suppl 2
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