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

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

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

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

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

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

10. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

13. 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. Contributors

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

23. Key Contextual Factors Involved with Participation in Medical and Genomic Screening and Research for African American and Caucasian Americans: A Qualitative Inquiry American Journal of Community Genetics

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. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

29. Multi-kinase inhibitor C1 triggers mitotic catastrophe of glioma stem cells mainly through MELK kinase inhibition.

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

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

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

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

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

39. 338 The Alabama Genomic Health Initiative: Integrating Genomic Medicine into Primary Care

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