Johan T. den Dunnen
0000-0002-6304-1710
5 papers found
Refreshing results…
NR2F1database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria
ACO2 clinicobiological dataset with extensive phenotype ontology annotation
Short hypervariable microhaplotypes: A novel set of very short high discriminating power loci without stutter artefacts
Yet another database?
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