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1. Correlation between age of onset and genotype with systemic symptomatology in Aicardi Goutières Syndrome

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

4. 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. Systemic complications of Aicardi Goutières syndrome using real-world data

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

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

9. Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy

10. The impact of clinical genome sequencing in a global population with suspected rare genetic disease

11. Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States

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

13. Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates

14. Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach

16. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

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

20. 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. Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.

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

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

27. Self-supervised Test-Time Adaptation for Medical Image Segmentation

28. Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome

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

31. Mutation update for the SATB2 gene.

34. The prototypical interferonopathy: Aicardi‐Goutières syndrome from bedside to bench.

36. Nucleotide metabolism, leukodystrophies, and CNS pathology.

38. Systemic Complications and Natural History of Aicardi Goutières Syndrome (P6-8.001)

39. Characterization of Fine Motor and Visual Motor Skills in Aicardi-Goutières Syndrome

40. Effective Gene Therapy for Metachromatic Leukodystrophy Achieved with Minimal Lentiviral Genomic Integrations

41. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

44. TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.

45. Utility of genome sequencing in exome‐negative pediatric patients with neurodevelopmental phenotypes.

47. Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study

48. Development of a rigorous approach for retrospective natural history studies in leukodystrophies

49. Validation of GMFC-MLD scale as a measure of gross motor function in metachromatic leukodystrophy

50. Generation of three induced pluripotent stem cell lines from individuals with Aicardi-Goutières syndrome caused by a c.3019G>A (p.G1007R) autosomal dominant pathogenic variant in ADAR1

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