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

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

3. Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic 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. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

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. Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndrome.

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

22. Disorders of Glycerol Metabolism

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

24. De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features

25. SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

26. IgG4‐related disease: Association with a rare gene variant expressed in cytotoxic T cells

27. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

28. IRF2BPL Is Associated with Neurological Phenotypes

29. 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. The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children

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

34. Modeling craniofacial and skeletal congenital birth defects to advance therapies

35. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

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

37. Gestational diabetes associated with a novel mutation (378–379insTT) in the glycerol kinase gene

38. Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

39. Development of catecholamine and cortisol stress responses in zebrafish

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

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

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

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

44. Genetics

45. Disruption of glycerol metabolism by RNAi targeting of genes encoding glycerol kinase results in a range of phenotype severity in Drosophila.

46. Glycerol hypersensitivity in a Drosophila model for glycerol kinase deficiency is affected by mutations in eye pigmentation genes.

47. Clinical findings associated with a de novo partial trisomy 10p11.22p15.3 and monosomy 7p22.3 detected by chromosomal microarray analysis.

48. Validation of candidate causal genes for obesity that affect shared metabolic pathways and networks

49. In vivo time-resolved autofluorescence measurements to test for glycation of human skin.

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