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25 results on '"Simpson, Brittany N"'

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1. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

2. Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

3. Potential endpoints for assessment of bone health in persons with neurofibromatosis type 1

10. Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome‐wide sequencing

11. The 2019–2020 Dengue Fever Epidemic: Genomic Markers Indicating Severity in Dominican Republic Children

13. KMT2D Regulates thymic Egress by Modulating Maturation and integrin Expression

14. The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience

16. Evaluation and classification of severity for 176 genes on an expanded carrier screening panel

17. Evaluation and classification of severity for 176 genes on an expanded carrier screening panel

18. De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects

20. Blood metabolite markers of cognitive performance and brain function in aging

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