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12 results on '"Scott, C. Ron"'

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1. Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder

2. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

3. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

4. Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

5. Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

6. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

7. De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

8. Bi-allelic variants in INTS11 are associated with a complex neurological disorder

9. A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

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

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

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

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