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704 results on '"Ketkar A"'

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1. Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

2. Oct-4: More than a Pluripotent Marker?

4. An ultra-early, transient interferon-associated innate immune response associates with protection from SARS-CoV-2 infection despite exposure

7. Indocyanine green-enhanced transpupillary thermotherapy for juxtapapillary retinal capillary hemangioblastoma

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

9. 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

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

16. The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing

17. De novo variants in DENND5B cause a neurodevelopmental disorder

18. Marathi Speech Emotion recognition using Deep Learning techniques.

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

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

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

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

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

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

26. Risk factors and vectors for SARS-CoV-2 household transmission: a prospective, longitudinal cohort study

27. Pericentromeric satellite lncRNAs are induced in cancer-associated fibroblasts and regulate their functions in lung tumorigenesis

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

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

30. Of Ravens and Owls

34. Onset and window of SARS-CoV-2 infectiousness and temporal correlation with symptom onset: a prospective, longitudinal, community cohort study

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

36. Recessive loss‐of‐function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine–Lubinsky syndrome.

38. Development and evaluation of a training curriculum to engage researchers on accessing and analyzing the All of Us data.

39. Experiences in providing a community educational resource for the All of Us Researcher Workbench.

42. Chronically hypertensive transgenic mice expressing human AT1R haplotype-I exhibit increased susceptibility to Francisella tularensis

43. Community transmission and viral load kinetics of the SARS-CoV-2 delta (B.1.617.2) variant in vaccinated and unvaccinated individuals in the UK: a prospective, longitudinal, cohort study

45. Implementing foundation course for the first time-qualitative analysis of medical students' feedback and lessons learned

48. Initiation of wound healing is regulated by the convergence of mechanical and epigenetic cues.

49. Underweight Indian Women at a Risk for Developing Breast Cancer: A Retrospective Study

50. Cosensitization of a Tetraethylene Glycol‐Substituted Unsymmetrical Zinc Phthalocyanine Sensitized Solar Cells with D131 Auxiliary Dye Exhibited Enhanced Efficiency.

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