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UnknownAdditional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI.
Not available
S-EPMC8971417 | biostudies-literature
UnknownEssential roles of plexin-B3+ oligodendrocyte precursor cells in the pathogenesis of Alzheimer's disease.
Not available
S-EPMC8282672 | biostudies-literature
UnknownTargeted deletion of both thymidine phosphorylase and uridine phosphorylase and consequent disorders in mice.
Not available
S-EPMC139774 | biostudies-literature
UnknownExploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysis.
Not available
S-EPMC10703243 | biostudies-literature
UnknownAssessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes.
Not available
S-EPMC10874402 | biostudies-literature
UnknownWilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy.
Not available
S-EPMC11362149 | biostudies-literature
UnknownAssociation study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome.
Not available
S-EPMC11599039 | biostudies-literature
UnknownA homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD.
Not available
S-EPMC11613597 | biostudies-literature
UnknownGermline variants of the POLH and RAD51 genes are candidate variants associated with risk of hormone receptor-negative young-onset breast cancer.
Not available
S-EPMC12663359 | biostudies-literature
UnknownUrate-lowering therapy for CKD patients with asymptomatic hyperuricemia without proteinuria elucidated by attribute-based research in the FEATHER Study.
Not available
S-EPMC8904814 | biostudies-literature
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