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UnknownDe Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.
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S-EPMC6731360 | biostudies-literature
UnknownHCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.
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S-EPMC12226820 | biostudies-literature
UnknownA syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Not available
S-EPMC10806447 | biostudies-literature
UnknownELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.
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S-EPMC12260708 | biostudies-literature
UnknownJoint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.
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S-EPMC12328722 | biostudies-literature
UnknownAn optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser.
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S-EPMC12539062 | biostudies-literature
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