Elaine Zackai
0000-0002-8002-893X
3 papers found
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Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
Molecular Diagnostic Outcomes from 700 Cases
Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition
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