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

3. Effective gene therapy for metachromatic leukodystrophy achieved with minimal lentiviral genomic integrations

4. The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy

6. De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies

7. Enasidenib‐induced hepatitis in an individual with Type II D2‐hydroxyglutaric aciduria

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

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

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

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

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

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

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

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

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

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

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

21. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

24. 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

25. Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy

26. 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

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

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

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

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

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

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

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

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

35. ISR mRNAs as potential blood biomarkers in patients with vanishing white matter

38. Mutation update for the SATB2 gene.

40. SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières Syndrome

42. Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services

43. Hematologic abnormalities in Aicardi Goutières Syndrome

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

45. Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study.

47. Generation of three induced Pluripotent Stem Cell lines from individuals with Hypomyelination with Atrophy of Basal Ganglia and Cerebellum caused by a c.745G>A (p.D249N) autosomal dominant mutation in TUBB4A

48. Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome

49. O38: The impact of whole genome sequencing in a diverse global population of genetic disease patients

50. Expanded phenotype of AARS1-related white matter disease

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