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1. SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

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

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

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

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

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

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

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

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

10. Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples

11. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

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

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

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

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

21. De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects

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

23. Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis

24. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

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

28. EFEMP1 haploinsufficiency causes a Marfan‐like hereditary connective tissue disorder.

29. Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.

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

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

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

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

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

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

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

39. P121: Comparison of diagnostic outcome amongst different ethnic backgrounds in UDN participants at the University of Miami clinical site

41. P642: Diagnostic yield of multi-omics approach in Undiagnosed Diseases Network Miami clinical site

42. H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.

43. Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

44. Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

45. One is the loneliest number: genotypic matchmaking using the electronic health record

46. Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

47. Correction to:An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (Genetics in Medicine, (2021), 23, 4, (740-750), 10.1038/s41436-020-01027-3)

48. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

49. Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.

50. Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variant.

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