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UnknownA Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
Not available
S-EPMC5223093 | biostudies-literature
UnknownThe genomics of heart failure: design and rationale of the HERMES consortium.
Not available
S-EPMC8712846 | biostudies-literature
UnknownIRF2BPL Is Associated with Neurological Phenotypes.
Not available
S-EPMC6081494 | biostudies-literature
UnknownEffect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
Not available
S-EPMC6481166 | biostudies-literature
UnknownA comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.
Not available
S-EPMC6295275 | biostudies-literature
UnknownExpanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Not available
S-EPMC6323608 | biostudies-literature
UnknownBiallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Not available
S-EPMC6117612 | biostudies-literature
UnknownDe Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Not available
S-EPMC5065681 | biostudies-literature
UnknownThe Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.
Not available
S-EPMC5294757 | biostudies-literature
UnknownMapping the human genetic architecture of COVID-19.
Not available
S-EPMC8674144 | biostudies-literature
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