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

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

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

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

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

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

14. Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples

15. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

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

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

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

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

23. Gonioscopy-assisted Transluminal Trabeculotomy (GATT) in Patients With Secondary Open-Angle Glaucoma Following Vitreoretinal Surgery

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

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

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

28. De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects

29. Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis

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

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

34. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

35. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

36. Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

37. Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

39. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

41. Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

43. International Study of Childhood Glaucoma

45. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

46. De novo variants in DENND5B cause a neurodevelopmental disorder

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

49. Cyclodestruction

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