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

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

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

7. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

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

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

13. Flying in helicopters is safer than you might think – an aerospace engineer explains the technology and training that make it so

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

15. 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

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

22. IRF2BPL Is Associated with Neurological Phenotypes

23. Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

24. De novo variants in DENND5B cause a neurodevelopmental disorder

25. Findings from the Longitudinal CINRG Becker Natural History Study

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

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

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

30. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial

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

34. Two Years of Newborn Screening for Duchenne Muscular Dystrophy as a Part of the Statewide Early Check Research Program in North Carolina

35. Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial.

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

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

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

42. Dynamic Load Analysis of Motion Converter Ball Bearings in a Pericyclic Transmission.

43. Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders

44. Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function

49. Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy

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

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