275 results on '"Walkiewicz, Magdalena"'
Search Results
2. Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function
3. TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies
4. Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation
5. The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1
6. 73 Reconstitution of norovirus-specific T cell responses following hematopoetic stem cell transplantation in patients with inborn errors of immunity and chronic norovirus infection
7. 28 Genome sequencing identifies unexpected diagnosis for a toddler with persistent infection
8. Genomics technologies and bioinformatics in allergy and immunology
9. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
10. Robust Antibody and T Cell Responses to SARS-CoV-2 in Patients with Antibody Deficiency
11. Genetic Risk Factors for Early-Onset Merkel Cell Carcinoma
12. Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging
13. Advances in Molecular Genetics Including Fetal Sequencing
14. List of Contributors
15. Lung Transplantation for FLNA-Associated Progressive Lung Disease
16. Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
17. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
18. Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity
19. Reappraisal of Idiopathic CD4 Lymphocytopenia at 30 Years
20. Chromosomal microarray analysis reveals copy number variants contribute to disease in children with suspected inborn errors of immunity
21. Curious cases of GATA2 deficiency: clonal evolution or dual diagnoses?
22. High rate of molecular diagnosis among individuals with alopecia with known or suspected inborn errors of immunity
23. Variable Clinical Presentation in Individuals with Truncating Variants in DDX41
24. Atypical Presentations of Hypomorphic X-Linked SCID
25. Clinical relevance of somatic mosaic variants detected from exome sequencing data
26. Patient Perspectives on Adaptation to Inborn Errors of Immunity
27. Deep sequencing refines prior genomic analysis in families with apparent gonadal mosaicism
28. Case report: Discovery of a de novo FAM111B pathogenic variant in a patient with an APECED-like clinical phenotype
29. Allergic Bronchopulmonary Aspergillosis in Patients with Dominant Negative IL6ST
30. FOXI3 haploinsufficiency contributes to low T-cell receptor excision circles and T-cell lymphopenia
31. Prenatal Diagnostic Exome Sequencing: a Review
32. Chromosomal Microarray Analysis Supplements Exome Sequencing to Diagnose Children with Suspected Inborn Errors of Immunity
33. Human Dectin-1 deficiency impairs macrophage-mediated defense against phaeohyphomycosis
34. T61. PERSONAL UTILITY OF POLYGENIC RISK SCORES: ATTITUDES AND INTEREST AMONG INDIVIDUALS WITH MAJOR DEPRESSIVE DISORDER AND TREATMENT RESISTANT DEPRESSION
35. CONTRIBUTION OF GENOME SEQUENCING IN THE EVALUATION OF CHILDREN AND ADOLESCENTS WITH SUSPECTED SERONEGATIVE AUTOIMMUNE ENCEPHALITIS
36. Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations
37. PRESENTING A MULTIDISCIPLINARY FRAMEWORK FOR RESEARCH GENOME SEQUENCING COUPLED WITH GENETIC COUNSELING AND RETURN OF CLINICALLY VALIDATED PRIMARY AND SECONDARY FINDINGS FOR INDIVIDUALS WITH PSYCHIATRIC DISORDERS
38. Early-Onset Merkel Cell Carcinoma is Associated with Germline Defects in DNA Repair Genes and a Rare Immunodeficiency
39. Supplement to: Resolution of disease phenotypes resulting from multilocus genomic variation.
40. Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1‐associated neurodevelopmental disorder (DAND) phenotype
41. Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder
42. The contribution of rare copy number variants in FAS toward pathogenesis of autoimmune lymphoproliferative syndrome
43. Clinical and molecular characterization of de novo loss of function variants in HNRNPU
44. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
45. 623 - Topical steroid withdrawal is a targetable overproduction of nicotinic acid from mitochondrial complex I overexpression.
46. Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant
47. Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
48. 25 - Advances in Molecular Genetics Including Fetal Sequencing
49. SASH3variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation
50. A deep intronic splice–altering AIREvariant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion
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