Associated Papers
Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations.
Muhammad A et al.
Clinical Genetics, 2026
Rare Sequence Variation Underlying Suspected Familial Cerebral Small-Vessel Disease.
Cho BPH et al.
Journal of the American Heart Association, 2024
39082428 (PubMed )
Supplement: JAH3-13-e035771-s001.pdf
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia.
Dahl S et al.
Plos One, 2020
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Rare_diseases
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