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629 results on '"Smith, Kevin"'

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5. Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

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

7. The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

8. Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

9. Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder

10. Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

12. Molecular adaptations in response to exercise training are associated with tissue-specific transcriptomic and epigenomic signatures

13. The mitochondrial multi-omic response to exercise training across rat tissues

14. Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

15. De novo variants in DENND5B cause a neurodevelopmental disorder

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

18. Mapping the proteogenomic landscape enables prediction of drug response in acute myeloid leukemia

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

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

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

27. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

28. Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

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

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

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

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

40. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

43. Loss of mouse Stmn2 function causes motor neuropathy

44. First report from the German COVID-19 autopsy registry

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