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1. Mutations in protein kinase Cγ promote spinocerebellar ataxia type 14 by impairing kinase autoinhibition

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

8. Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation

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

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

22. Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

24. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

27. TREM2 variants that cause early dementia and increase Alzheimer's disease risk affect gene splicing.

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

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

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. Targeted analysis of dyslexia-associated regions on chromosomes 6, 12 and 15 in large multigenerational cohorts

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

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

38. Evidence-Based Reading and Writing Assessment for Dyslexia in Adolescents and Young Adults

40. Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

41. Presence of Large Deletions in Kindreds with Autism

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

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

45. Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A

46. Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A

47. Deficits in Sequential Processing Manifest in Motor and Linguistic Tasks in a Multigenerational Family with Childhood Apraxia of Speech

48. Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.

49. Global Processing Speed in Children with Low Reading Ability and in Children and Adults with Typical Reading Ability: Exploratory Factor Analytic Models

50. Evidence for a Familial Speech Sound Disorder Subtype in a Multigenerational Study of Oral and Hand Motor Sequencing Ability

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