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UnknownInternational Consensus Recommendations for Eosinophilic Gastrointestinal Disease Nomenclature.
Not available
S-EPMC9378753 | biostudies-literature
UnknownCharacteristics of undiagnosed diseases network applicants: implications for referring providers.
Not available
S-EPMC6106923 | biostudies-literature
UnknownIgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells.
Not available
S-EPMC6565556 | biostudies-literature
UnknownThe Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.
Not available
S-EPMC5294757 | 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
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
UnknownMARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.
Not available
S-EPMC5670038 | biostudies-literature
UnknownMulti-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications.
Not available
S-EPMC10081410 | biostudies-literature
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