Sort   by:  
 Page size 
UnknownJoint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.
Not available
S-EPMC12328722 | 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
UnknownReanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy.
Not available
S-EPMC11934095 | biostudies-literature
UnknownAdvancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.
Not available
S-EPMC11698638 | biostudies-literature
UnknownELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.
Not available
S-EPMC12260708 | biostudies-literature
UnknownBiallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Not available
S-EPMC10932913 | biostudies-literature
Unknown<i>KIF21A</i>-associated peripheral neuropathy defined by impaired binding with TUBB3.
Not available
S-EPMC11773626 | biostudies-literature
UnknownDominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.
Not available
S-EPMC12358889 | biostudies-literature
UnknownAn autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Not available
S-EPMC8026396 | biostudies-literature
UnknownRheumatoid arthritis susceptibility loci at chromosomes 10p15, 12q13 and 22q13.
Not available
S-EPMC2662493 | biostudies-literature
Sort   by:  
 Page size