Associated Papers
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
Dias KR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.
Smits DJ et al.
Human Genetics, 2023
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