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1. De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies

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

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

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

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

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

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

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

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

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

11. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

14. Sex‐dimorphic effects of biogenesis of lysosome‐related organelles complex‐1 deficiency on mouse perinatal brain development

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

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

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

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

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

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

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

22. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

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

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

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

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

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

28. IRF2BPL Is Associated with Neurological Phenotypes

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

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

31. Sleep/Wake Disruption in a Mouse Model of BLOC-1 Deficiency.

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

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

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

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

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

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

38. Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

39. Identification of Atg2 and ArfGAP1 as Candidate Genetic Modifiers of the Eye Pigmentation Phenotype of Adaptor Protein-3 (AP-3) Mutants in Drosophila melanogaster.

40. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

43. A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

44. IRF2BPL Is Associated with Neurological Phenotypes

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

46. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

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

49. MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

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