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UnknownCharacteristics of undiagnosed diseases network applicants: implications for referring providers.
Not available
S-EPMC6106923 | biostudies-literature
UnknownA comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.
Not available
S-EPMC6295275 | biostudies-literature
UnknownLooking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Not available
S-EPMC5851806 | 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
UnknownDe Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Not available
S-EPMC5065681 | biostudies-literature
UnknownIRF2BPL Is Associated with Neurological Phenotypes.
Not available
S-EPMC6081494 | biostudies-literature
UnknownThe Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.
Not available
S-EPMC5294757 | biostudies-literature
UnknownFurther evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.
Not available
S-EPMC6169826 | biostudies-literature
UnknownA Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Not available
S-EPMC5294886 | biostudies-literature
UnknownHeterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.
Not available
S-EPMC6688907 | biostudies-literature
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