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UnknownHeterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.
Not available
S-EPMC6688907 | biostudies-literature
UnknownVigorous Exercise in Patients With Hypertrophic Cardiomyopathy.
Not available
S-EPMC10193262 | biostudies-literature
UnknownSPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Not available
S-EPMC10319774 | biostudies-literature
UnknownGlioma progression is shaped by genetic evolution and microenvironment interactions.
Not available
S-EPMC9189056 | biostudies-literature
UnknownBiallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Not available
S-EPMC10932913 | biostudies-literature
UnknownThe Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.
Not available
S-EPMC5294757 | biostudies-literature
UnknownPragmatic evaluation of events and benefits of lipid lowering in older adults (PREVENTABLE): Trial design and rationale.
Not available
S-EPMC10258159 | biostudies-literature
UnknownIdentification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Not available
S-EPMC6634302 | biostudies-literature
UnknownA toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.
Not available
S-EPMC7385984 | biostudies-literature
UnknownEffect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
Not available
S-EPMC6481166 | biostudies-literature
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