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Unknown<i>KIF21A</i>-associated peripheral neuropathy defined by impaired binding with TUBB3.
Not available
S-EPMC11773626 | biostudies-literature
UnknownGenome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.
Not available
S-EPMC9000935 | biostudies-literature
UnknownAdvancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.
Not available
S-EPMC11698638 | biostudies-literature
UnknownRecurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
Not available
S-EPMC10963296 | biostudies-literature
UnknownGlobal mortality of snakebite envenoming between 1990 and 2019.
Not available
S-EPMC9596405 | biostudies-literature
UnknownReanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy.
Not available
S-EPMC11934095 | biostudies-literature
UnknownImmunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant.
Not available
S-EPMC11223960 | biostudies-literature
UnknownDominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.
Not available
S-EPMC12358889 | biostudies-literature
UnknownContinuing a search for a diagnosis: the impact of adolescence and family dynamics.
Not available
S-EPMC9830697 | biostudies-literature
UnknownELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.
Not available
S-EPMC12260708 | biostudies-literature
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