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

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. Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders

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

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

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

12. Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort

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

14. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

15. De novo variants in DENND5B cause a neurodevelopmental disorder

16. Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders

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

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

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

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

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

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

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

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

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

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

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

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

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

33. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

34. Galactose epimerase deficiency: lessons from the GalNet registry

35. KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect

36. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

39. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

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

41. Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation

42. Brain function in classic galactosemia, a galactosemia network (GalNet) members review

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

44. ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients

45. Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female

46. Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals

47. List of Contributors

50. KCNQ1, KCNE2, and Na+-coupled solute transporters form reciprocally regulating complexes that affect neuronal excitability.

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