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UnknownSolving unsolved rare neurological diseases-a Solve-RD viewpoint.
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S-EPMC8440537 | biostudies-literature
UnknownBi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
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S-EPMC8546233 | biostudies-literature
UnknownPolygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome.
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S-EPMC9950421 | biostudies-literature
UnknownClinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
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S-EPMC10064225 | biostudies-literature
UnknownAn interconnected data infrastructure to support large-scale rare disease research.
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S-EPMC11413801 | biostudies-literature
UnknownComprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
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S-EPMC11513043 | biostudies-literature
UnknownGenomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders.
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S-EPMC7077032 | biostudies-literature
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