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UnknownA Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine Sequencing.
Not available
S-EPMC3755559 | biostudies-literature
UnknownAltered redox regulation and S-glutathionylation of BiP contribute to bortezomib resistance in multiple myeloma.
Not available
S-EPMC7704679 | biostudies-literature
UnknownBiallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Not available
S-EPMC7447524 | biostudies-literature
UnknownSPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Not available
S-EPMC10319774 | biostudies-literature
UnknownNeoadjuvant triplet immune checkpoint blockade in newly diagnosed glioblastoma.
Not available
S-EPMC12092302 | biostudies-literature
UnknownEndocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
Not available
S-EPMC9586540 | biostudies-literature
UnknownThe landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Not available
S-EPMC10825061 | biostudies-literature
UnknownTitin-related familial dilated cardiomyopathy: factors associated with disease onset.
Not available
S-EPMC12718689 | biostudies-literature
UnknownContinuing a search for a diagnosis: the impact of adolescence and family dynamics.
Not available
S-EPMC9830697 | biostudies-literature
UnknownVigorous Exercise in Patients With Hypertrophic Cardiomyopathy.
Not available
S-EPMC10193262 | biostudies-literature
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