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5 matching publication(s)
CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection.
PMID 41056017 · · 2025
L1
67/100
Thoracic aortic diseases: Identification of diagnostic biomarkers using proteomic analysis⚑
PMID 41061941 · · 2025
L1
23/100
⚑
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis
PMID 40963120 · Genome Medicine · 2025
L1
88/100
Thoracic Aortic Disease in Patients With Heterozygous Variants Outside the Central Region of FBN2.
PMID 40406865 · · 2025
L1
No data access
Pleiotropic effects of MORC2 derive from its epigenetic signature
PMID 40302207 · · 2025
L1
No data access