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Your search keyword '"Vandersteen, Anthony M."' showing total 19 results

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19 results on '"Vandersteen, Anthony M."'

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1. Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome.

2. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

3. The UK10K project identifies rare variants in health and disease

6. Publisher Correction:Whole-genome sequencing of a sporadic primary immunodeficiency cohort (Nature, (2020), 583, 7814, (90-95), 10.1038/s41586-020-2265-1)

7. Whole-genome sequencing of a sporadic primary immunodeficiency cohort

8. Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

9. Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

13. Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

14. A re-examination of two linear pentapeptides claimed to be serine protease mimics.

18. Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy.

19. Adams-Oliver syndrome, a family with dominant inheritance and a severe phenotype.

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