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1. Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome (NODRS)

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

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. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound 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. Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples

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

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

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

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

16. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

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

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

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

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

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

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

24. Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study

25. A multicenter study to evaluate pulmonary function in osteogenesis imperfecta

27. Heterozygous WNT1 variant causing a variable bone phenotype

28. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

32. Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

34. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria(European Journal of Human Genetics, (2021), 29, 8, (1186-1197), 10.1038/s41431-021-00858-1)

37. A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis

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

41. Actionable exomic incidental findings in 6503 participants: challenges of variant classification

42. A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome

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

44. Vertebral Tortuosity Is Associated With Increased Rate of Cardiovascular Events in Vascular Ehlers‐Danlos Syndrome

45. Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition

46. Syntaxin 18 defects in human and zebrafish unravel key roles in early cartilage and bone development

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

49. Mobility in osteogenesis imperfecta: a multicenter North American study

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