429 results on '"Heon, Elise"'
Search Results
52. No ocular motility complications after subtenon topotecan with fibrin sealant for retinoblastoma
53. Therapies for Inherited Retinal Dystrophies: What is Enough?
54. Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147
55. Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion
56. The Bardet-Biedl Syndrome
57. Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction
58. Human Gene Therapy for RPE65 Isomerase Deficiency Activates the Retinoid Cycle of Vision but with Slow Rod Kinetics
59. Human Cone Photoreceptor Dependence on RPE65 Isomerase
60. Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1
61. Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity
62. Using RB1 mutations to assess minimal residual disease in metastatic retinoblastoma
63. Visual Acuity in Patients with Leber's Congenital Amaurosis and Early Childhood-Onset Retinitis Pigmentosa
64. Comparative Natural History of Visual Function From Patients With Biallelic Variants inBBS1andBBS10
65. A small grant funding program to promote innovation at an academic research hospital
66. Improvement and Decline in Vision with Gene Therapy in Childhood Blindness
67. Management and outcome of unilateral retinoblastoma
68. High-resolution retinal imaging in young children using a handheld scanner and Fourier-domain optical coherence tomography
69. Retinal morphology in patients with BBS1 and BBS10 related Bardet–Biedl Syndrome evaluated by Fourier-domain optical coherence tomography
70. The Need for Standardization of Antiretinal Antibody Detection and Measurement
71. Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.
72. Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147
73. Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: Biochemical and clinical evaluations
74. The Ocular Genetics Program: multidisciplinary care of patients with ocular genetic eye disease
75. CRYBA4, a novel human cataract gene, is also involved in microphthalmia
76. Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy
77. Optic Atrophy and Inner Retinal Thinning in CACNA1F-Related Congenital Stationary Night Blindness
78. Treatments for inherited retinal degenerations are coming to Canada: brief update on a new standard of care for inherited retinal degenerations
79. Morning glory disc anomaly, midline cranial defects and abnormal carotid circulation: an association worth looking for
80. Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis
81. Utility of molecular testing for related retinal dystrophies
82. Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants
83. Hand-held high-resolution spectral domain optical coherence tomography in retinoblastoma: clinical and morphologic considerations
84. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene
85. Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations: Safety and Efficacy in 15 Children and Adults Followed Up to 3 Years
86. The Bardet–Biedl Syndromes
87. Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task Force
88. Decision letter: Large-scale phenotypic drug screen identifies neuroprotectants in zebrafish and mouse models of retinitis pigmentosa
89. PATHOLOGICAL RISK FACTORS AND RISK OF METASTASIS IN RETINOBLASTOMA: 5.
90. The (Gamma)-Crystallins and Human Cataracts: A Puzzle Made Clearer
91. Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population
92. Unusual ocular presentation of von Hippel-Lindau disease
93. large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.
94. Retinal morphological changes of patients with X-linked retinoschisis evaluated by fourier-domain optical coherence tomography
95. Gene localization for aculeiform cataract, on chromosome 2q33-35
96. Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS (ital) gene and apparent locus heterogeneity
97. Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals
98. Periocular Chemotherapy for Retinoblastoma: Success With Problems?
99. Ocular Motility Changes After Subtenon Carboplatin Chemotherapy for Retinoblastoma
100. Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma
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