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1. Temporal dynamics of the multi-omic response to endurance exercise training

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

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

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

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

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

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

9. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

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

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

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

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

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

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

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

20. G9a Modulates Lipid Metabolism in CD4 T Cells to Regulate Intestinal Inflammation

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

22. Characterization of cellular senescence in aging skeletal muscle

23. Exerkines in health, resilience and disease

25. Insulin Regulation of Lysine and α-Aminoadipic Acid Dynamics and Amino Metabolites in Women With and Without Insulin Resistance.

27. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

31. Toward Absolute Quantification of Soluble Proteins via Proton Nuclear Magnetic Resonance Spectroscopy: Total Protein Concentration in Blood Plasma

33. Reduced oxidative capacity of skeletal muscle IS NOT an inevitable consequence of adult ageing.

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

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

38. Reply to ‘Lactate as a major myokine and exerkine’

40. Metabolomic response to acute resistance exercise in healthy older adults by 1H-NMR.

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

42. GADD45A is a mediator of mitochondrial loss, atrophy, and weakness in skeletal muscle

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

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

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

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

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