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Your search keyword '"MacDowall, John"' showing total 6 results

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6 results on '"MacDowall, John"'

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1. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

2. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

3. Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

4. Correction to:An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (Genetics in Medicine, (2021), 23, 4, (740-750), 10.1038/s41436-020-01027-3)

5. Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

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