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UnknownDistinct germline genetic susceptibility profiles identified for common non-Hodgkin lymphoma subtypes.
Not available
S-EPMC10337695 | biostudies-literature
UnknownA syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Not available
S-EPMC10806447 | biostudies-literature
UnknownJoint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.
Not available
S-EPMC12328722 | biostudies-literature
UnknownAn optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser.
Not available
S-EPMC12539062 | biostudies-literature
UnknownAdvancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.
Not available
S-EPMC11698638 | biostudies-literature
UnknownReanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy.
Not available
S-EPMC11934095 | biostudies-literature
Unknown<i>KIF21A</i>-associated peripheral neuropathy defined by impaired binding with TUBB3.
Not available
S-EPMC11773626 | 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
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