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192 results on '"Sullivan, Kathleen"'

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

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

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

4. The common variable immunodeficiency IgM repertoire narrowly recognizes erythrocyte and platelet glycans

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

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

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

9. De novo variants in DENND5B cause a neurodevelopmental disorder

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

11. Serum cytokine panels in pediatric clinical practice

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

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

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

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

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

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

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

21. Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome

22. Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome

23. The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions

26. Allergic manifestations of inborn errors of immunity and their impact on the diagnosis: A worldwide study

28. Morbidity, Mortality, and Therapeutics in Combined Immunodeficiency: Data From the USIDNET Registry

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

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

32. Immune Dysregulation in Human ITCH Deficiency Successfully Treated with Hematopoietic Cell Transplantation

34. Evidence of thrombotic microangiopathy in children with SARS-CoV-2 across the spectrum of clinical presentations

38. Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology

39. Common variable immunodeficiency–associated endotoxemia promotes early commitment to the T follicular lineage

41. Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study

42. Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease

45. X-linked agammaglobulinemia (XLA): Phenotype, diagnosis, and therapeutic challenges around the world

46. Patients with common variable immunodeficiency with autoimmune cytopenias exhibit hyperplastic yet inefficient germinal center responses

49. High symptom burden in female X-linked chronic granulomatous disease carriers

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