391 results on '"Siggs, Owen"'
Search Results
52. The Role of BH3-Only Protein Bim Extends beyond Inhibiting Bcl-2-like Prosurvival Proteins
53. Infliximab Reverses Symptoms and May Protect from Developing Chronic Restrictive Ophthalmopathy in Children with Familial Orbital Myositis: A Case Report
54. Comparison of Anterior Segment Abnormalities in Individuals With FOXC1 and PITX2 Variants
55. RNA Sequencing of Lens Capsular Epithelium Implicates Novel Pathways in Pseudoexfoliation Syndrome
56. Environmental and genetic disease modifiers of haploinsuffciency of A20
57. SPECIFICATIONS OF THE ACMG/AMP VARIANT CURATION GUIDELINES FOR MYOCILIN: RECOMMENDATIONS FROM THE CLINGEN GLAUCOMA EXPERT PANEL
58. 7. MUTATION SPECTRUM OF PRIMARY CONGENITAL GLAUCOMA IN THE AUSTRALIAN AND NEW ZEALAND REGISTRY OF ADVANCED GLAUCOMA: 1907
59. 8. GLAUCOMA PHENOTYPIC SPECTRUM IN PATIENTS WITH PITX2 AND FOXC1 MUTATIONS INCLUDES PRIMARY OPEN-ANGLE GLAUCOMA AND PRIMARY CONGENITAL GLAUCOMA: 1908
60. Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss
61. Attitudes towards glaucoma genetic risk assessment in unaffected individuals
62. Eosinophilic Vasculitis and Arteritic Anterior Ischemic Optic Neuropathy Associated With Anti-PD-L1 Therapy
63. Association of Monogenic and Polygenic Risk With the Prevalence of Open-Angle Glaucoma
64. An Slfn2 mutation causes lymphoid and myeloid immunodeficiency due to loss of immune cell quiescence
65. A mutation of Ikbkg causes immune deficiency without impairing degradation of I[kappa]B[alpha]
66. Dissecting mammalian immunity through mutation
67. A ZAP-70 kinase domain variant prevents thymocyte-positive selection despite signalling CD69 induction
68. Additional file 3 of Exome-based investigation of the genetic basis of human pigmentary glaucoma
69. Additional file 2 of Exome-based investigation of the genetic basis of human pigmentary glaucoma
70. Additional file 1 of Exome-based investigation of the genetic basis of human pigmentary glaucoma
71. Unravelling the association of partial T-cell immunodeficiency and immune dysregulation
72. Reply
73. Opposing Functions of the T Cell Receptor Kinase ZAP-70 in Immunity and Tolerance Differentially Titrate in Response to Nucleotide Substitutions
74. A novel GSN variant outside the G2 calcium‐binding domain associated with Amyloidosis of the Finnish type
75. Risk Stratification and Clinical Utility of Polygenic Risk Scores in Ophthalmology
76. Normal-tension glaucoma is associated with cognitive impairment
77. Normal-tension glaucoma is associated with cognitive impairment.
78. The why and how of thymocyte negative selection
79. Gene‐specific facial dysmorphism in Axenfeld‐Rieger syndrome caused byFOXC1andPITX2variants
80. Automated AI labelling of optic nerve head enables new insights into cross-ancestry glaucoma risk and genetic discovery in over 280,000 images from the UK Biobank and Canadian Longitudinal Study on Aging
81. SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma
82. Predicting the genetic risk of glaucoma
83. The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort
84. Mammalian γ2 AMPK regulates intrinsic heart rate
85. Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants
86. Tracing the action of IL-2 in tolerance to islet-specific antigen
87. The phenotypic spectrum of ADAMTSL4-associated ectopia lentis: Additional cases, complications, and review of literature.
88. Comparison of Anterior Segment Abnormalities in Individuals With FOXC1and PITX2Variants
89. The genetic and clinical landscape of nanophthalmos in an Australian cohort
90. Molecular Analysis of Goodpasture’s Disease Following Hematopoietic Stem Cell Transplant in a Pediatric Patient, Recalls the Conformeropathy of Wild-Type Anti-GBM Disease
91. Preponderance of CTLA4 Variation Associated With Autosomal Dominant Immune Dysregulation in the MYPPPY Motif
92. Prevalence ofFOXC1Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma
93. Phospho-tuning immunity through Denisovan, modern human and mouse TNFAIP3 gene variants
94. Loss of ciliary zonule protein hydroxylation and lens stability as a predicted consequence of biallelicASPHvariation
95. Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies
96. Gene‐specific facial dysmorphism in Axenfeld‐Rieger syndrome caused by FOXC1 and PITX2 variants.
97. Congenital glaucoma with anterior segment dysgenesis in individuals with biallelicCPAMD8variants
98. Forward genetic analysis of mammalian immunity
99. Probability of phenotypically detectable protein damage by ENU-induced mutations in the Mutagenetix database
100. Erratum: Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.