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448 results on '"MacRae, Calum"'

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1. Understanding activity and physiology at scale: The Apple Heart & Movement Study

3. Perturbational phenotyping of human blood cells reveals genetically determined latent traits associated with subsets of common diseases

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

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

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

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

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

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

10. Transcriptomic and spatial dissection of human ex vivo right atrial tissue reveals proinflammatory microvascular changes in ischemic heart disease

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

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

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

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

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

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

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

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

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

26. Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

27. Glyoxylate protects against cyanide toxicity through metabolic modulation

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

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

34. REALM-DCM: A Phase 3, Multinational, Randomized, Placebo-Controlled Trial of ARRY-371797 in Patients With Symptomatic LMNARelated Dilated Cardiomyopathy.

35. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

38. Investigating the replacement of carboxylates with carboxamides to modulate the safety and efficacy of platinum(II) thioether cyanide scavengers.

40. Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study

46. Prdm16 mutation determines sex-specific cardiac metabolism and identifies two novel cardiac metabolic regulators.

48. Baseline Characteristics of the VANISH Cohort

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