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Your search keyword '"Yamamoto, Shinya"' showing total 161 results

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161 results on '"Yamamoto, Shinya"'

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

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

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

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

19. Improving access to exome sequencing in a medically underserved population through the Texome Project

24. De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features

25. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

33. Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies

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

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

37. A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins

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

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

41. Differences among epitopes recognized by neutralizing antibodies induced by SARS-CoV-2 infection or COVID-19 vaccination

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

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

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

46. Characterization and antiviral susceptibility of SARS-CoV-2 Omicron BA.2

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