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1. Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data

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

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

5. Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort

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

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

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

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

18. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

24. Early role for a Na+,K+-ATPase (ATP1A3) in brain development

25. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

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

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

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

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

35. Contributors

37. Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

38. Tracer metabolomics reveals the role of aldose reductase in glycosylation

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

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

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

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

48. Galactose epimerase deficiency: lessons from the GalNet registry

49. Heterogenitatea neurologică la pacienții suspecți pentru tulburările congenitale ale glicozilării din Republica Moldova.

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