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UnknownDistinct Mitochondrial DNA Deletion Profiles in Pediatric B- and T-ALL During Diagnosis, Remission, and Relapse
Not available
S-EPMC12346118 | biostudies-literature
UnknownPromoter Methylation Leads to Hepatocyte Nuclear Factor 4A Loss and Pancreatic Cancer Aggressiveness.
Not available
S-EPMC11330932 | biostudies-literature
UnknownExperience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.
Not available
S-EPMC11297648 | biostudies-literature
UnknownGenome Sequencing for Diagnosing Rare Diseases.
Not available
S-EPMC11350637 | biostudies-literature
UnknownA Multi-Factorial Observational Study on Sequential Fecal Microbiota Transplant in Patients with Medically Refractory Clostridioides difficile Infection.
Not available
S-EPMC8624539 | biostudies-literature
UnknownTreatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
Not available
S-EPMC3891447 | biostudies-literature
UnknownNovel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Not available
S-EPMC8756545 | biostudies-literature
UnknownPhenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Not available
S-EPMC8093014 | biostudies-literature
UnknownThe clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Not available
S-EPMC10393417 | biostudies-literature
UnknownBi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Not available
S-EPMC8546233 | biostudies-literature
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