Associated Papers
A Novel Truncating Variant in Sandestig-Stefanova Syndrome with Hydrocephalus.
Bulut G et al.
Molecular Syndromology, 2025
NUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?
Sandestig A et al.
Molecular Syndromology, 2020
Genomic diagnostics within a medically underserved population: efficacy and implications.
Strauss KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
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