Sort   by:  
 Page size 
UnknownReanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy.
Not available
S-EPMC11934095 | biostudies-literature
UnknownELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.
Not available
S-EPMC12260708 | biostudies-literature
UnknownJoint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.
Not available
S-EPMC12328722 | biostudies-literature
UnknownBiallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Not available
S-EPMC10932913 | biostudies-literature
UnknownEffect of Thromboprophylaxis on Clinical Outcomes After COVID-19 Hospitalization.
Not available
S-EPMC10064277 | biostudies-literature
Sort   by:  
 Page size