Search

Your search keyword '"Newman, John H"' showing total 677 results

Search Constraints

Start Over You searched for: Author "Newman, John H" Remove constraint Author: "Newman, John H"
677 results on '"Newman, John H"'

Search Results

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

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

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

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

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

7. Diagnosis and Treatment of Right Heart Failure in Pulmonary Vascular Diseases: A National Heart, Lung, and Blood Institute Workshop.

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

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

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

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

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

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

14. IgG4‐related disease: Association with a rare gene variant expressed in cytotoxic T cells

15. Clinical Characteristics and Transplant-Free Survival Across the Spectrum of Pulmonary Vascular Disease

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

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

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

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

23. Podcasting and Digital Video in the Classroom: A Call for Research

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

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

26. List of Contributors

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

29. A medical odyssey of a 72‐year‐old man with Charcot–Marie–Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency.

30. Pulmonary Vascular Disease in Veterans with Post-Deployment Respiratory Syndrome

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

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

34. Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma

39. Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants

43. Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

44. Characterization of Immunopathology and Small Airway Remodeling in Constrictive Bronchiolitis

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

49. PVDOMICS: A Multi-Center Study to Improve Understanding of Pulmonary Vascular Disease Through Phenomics

50. A Look at the Condition of Rural Education Research: Setting a Direction for Future Research

Catalog

Books, media, physical & digital resources