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Your search keyword '"Pereira, Elaine M."' showing total 11 results

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11 results on '"Pereira, Elaine M."'

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1. Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma

2. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

3. Rare pathogenic variants in WNK3 cause X-linked intellectual disability

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9. COVID-19’s Impact on Genetics at One Medical Center in New York

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