-
1Academic Journal
المؤلفون: Manjushree Bhate, Maree Flaherty, Neil Rowe, Robert Howman-Giles
المصدر: Indian Journal of Ophthalmology, Vol 68, Iss 11, Pp 2607-2610 (2020)
مصطلحات موضوعية: horner syndrome, mibg scan, neuroblastoma, urinary vma levels, Ophthalmology, RE1-994
وصف الملف: electronic resource
-
2Academic Journal
المؤلفون: Maree Flaherty, Jessica Crippa, Irina Sim, Manjushree Bhate, Chian Chiang Nicholas Chow, Deepa Taranath, Glen Gole
المصدر: Australian Journal of Learning Difficulties. 2024 29(2):151-173.
Peer Reviewed: Y
Page Count: 23
Descriptors: Dyslexia, Learning Disabilities, Reading Difficulties, Perceptual Impairments, Visual Acuity, Visual Impairments, Eye Movements, Optometry, Vision, Comorbidity
-
3
المؤلفون: Jessica Crippa, Maree Flaherty, Sue Silveira
المصدر: Journal of Paediatrics and Child Health. 58:948-952
مصطلحات موضوعية: Vision Screening, Child, Preschool, Pediatrics, Perinatology and Child Health, Australia, Humans, Mass Screening, New South Wales
-
4
المؤلفون: Frank Martin, Maree Flaherty, Heather C Russell, Sue Silveira
المصدر: Eye (Lond)
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Visual acuity, genetic structures, Birth weight, Visual impairment, Vision Disorders, Visual Acuity, Vision, Low, Article, 03 medical and health sciences, 0302 clinical medicine, Quality of life, Informed consent, medicine, Humans, Medical diagnosis, Child, Full Term, business.industry, Australia, medicine.disease, eye diseases, Ophthalmology, Quality of Life, 030221 ophthalmology & optometry, Albinism, Female, medicine.symptom, business, 030217 neurology & neurosurgery
-
5
المؤلفون: Lip Hen Moey, Maree Flaherty, Andreas Zankl
المصدر: American Journal of Medical Genetics Part A. 179:1898-1901
مصطلحات موضوعية: Bone Diseases, Developmental, medicine.medical_specialty, business.industry, Optic Disk, Limb Deformities, Congenital, medicine.disease, Acetazolamide, Dysplasia, Child, Preschool, Ophthalmology, Optic Nerve Diseases, Genetics, medicine, Humans, Female, Optic disc swelling, Child, business, Genetics (clinical)
-
6
المؤلفون: Alan Ma, John R. Grigg, David J. Amor, Benjamin M. Nash, Karen Wong, Sarah E Leighton, Maree Flaherty, Gladys Ho, Marcel E. Dinger, Frank Martin, Natasha J Brown, James A. Smith, Gemma Jenkins, Himanshu Goel, André E. Minoche, Thet Gayagay, Emma L. Hackett, Mark J. Cowley, Katherine Holman, Katrina Slater, Tiffany Lai, Anson Cheng, Bruce Bennetts, Robyn V. Jamieson, Elizabeth Farnsworth
المصدر: Human mutationREFERENCES. 42(9)
مصطلحات موضوعية: Genetics, 0303 health sciences, DNA Copy Number Variations, 030305 genetics & heredity, Chromosome Mapping, High-Throughput Nucleotide Sequencing, Genomics, Biology, medicine.disease, DNA sequencing, Cataract, 03 medical and health sciences, Cataracts, Exome Sequencing, Congenital cataracts, medicine, Humans, Exome, Copy-number variation, Indel, Genetics (clinical), Exome sequencing, 030304 developmental biology
-
7
المؤلفون: Clare L. Fraser, Frank A. Billson, V. Jayanetti, John R. Grigg, Stuart L. Graham, M. Dexter, Meredith Wilson, Maree Flaherty, Alexander Klistorner, Kathryn N. North, Kristi J. Jones
المصدر: Journal of Clinical Neuroscience. 50:262-267
مصطلحات موضوعية: Adult, Male, Neurofibromatosis 2, Optic nerve sheath, medicine.medical_specialty, Visual acuity, genetic structures, Vision Disorders, Visual evoked potentials, Optic nerve function, 03 medical and health sciences, 0302 clinical medicine, Physiology (medical), Ophthalmology, Optic Nerve Diseases, Meningeal Neoplasms, Humans, Medicine, Neurofibromatosis type 2, Neurofibromatosis, Child, General anaesthetic, business.industry, General Medicine, Middle Aged, medicine.disease, Magnetic Resonance Imaging, eye diseases, Neurology, 030221 ophthalmology & optometry, Optic nerve, Evoked Potentials, Visual, Female, Surgery, Neurology (clinical), Visual Fields, medicine.symptom, Meningioma, business, 030217 neurology & neurosurgery
-
8
المؤلفون: Manjushree, Bhate, Maree, Flaherty, Frank J, Martin
المصدر: Indian Journal of Ophthalmology. 70:386
مصطلحات موضوعية: Depth Perception, Vision, Binocular, Ophthalmology, Esotropia, Oculomotor Muscles, Humans, Infant, Postoperative Period, Plastic Surgery Procedures
-
9
المؤلفون: James E. Elder, David J. Amor, Annabelle Enriquez, Tiffany Lai, Saira Yousoof, Katherine Holman, Thet Gayagay, Chloe A Stutterd, Benjamin M. Nash, Emma L. Hackett, Gemma Jenkins, Frank Martin, Mark J. Cowley, Marcel E. Dinger, Katrina Fisk, Karen Wong, Meredith Wilson, Robyn V. Jamieson, André E. Minoche, Alan Ma, Anson Cheng, Benjamin Kamien, Bruce Bennetts, Tanya Karaconji, Elizabeth Farnsworth, Gladys Ho, Maree Flaherty, John R. Grigg, John Nelson
المصدر: Genetics in Medicine
مصطلحات موضوعية: 0301 basic medicine, 030105 genetics & heredity, Biology, medicine.disease_cause, DNA sequencing, Article, exome and genome sequencing, 03 medical and health sciences, ADAMTS Proteins, Anterior Eye Segment, medicine, Humans, Eye Abnormalities, Gene, Genetics (clinical), Exome sequencing, Genetic testing, Genetics, Mutation, medicine.diagnostic_test, Genetic heterogeneity, Chromosome, Eye Diseases, Hereditary, Forkhead Transcription Factors, eye, Pedigree, ophthalmology, 030104 developmental biology, genomic medicine, Cytochrome P-450 CYP1B1, Human genome, ocular anterior segment dysgenesis
-
10
المؤلفون: Grant T. Liu, Raymond G. Areaux, Trent R. Hummel, Duncan Stearns, Aimee Sato, W. Walker Motley, Laura J. Klesse, Steven F Stasheff, Arun Y. Reginald, Tena Rosser, David Van Mater, Adam J. Esbenshade, Mays A. El-Dairi, Emily McCourt, Robert Listernick, Eric Bouffet, Nicole J. Ullrich, Shannon Beres, Maree Flaherty, Miriam Bornhorst, Gary Cutter, Michael Fisher, Jeffrey C. Allen, Jason H. Peragallo, Christopher L. Moertel, Faruk Orge, Gena Heidary, Mark Borchert, Simone L. Ardern-Holmes, Milan P. Ranka, John R. Crawford, Kevin J. Bielamowicz, Henry S. O'Halloran, Nicholas K. Foreman, Robert A. Avery, Kristina Tarczy-Hornoch, Cynthia J. Campen, Paul H. Phillips, David H. Gutmann, Peter de Blank, Nick Hogan, David S. Wolf, Janice Lasky Zeid, Michael C. Brodsky, Sean P. Donahue, Rosalie E. Ferner
المصدر: Neuro-Oncology
مصطلحات موضوعية: Oncology, musculoskeletal diseases, Cancer Research, medicine.medical_specialty, business.industry, Newly diagnosed, medicine.disease, Neurofibromatosis, Internal medicine, medicine, AcademicSubjects/MED00300, Center (algebra and category theory), AcademicSubjects/MED00310, Neurology (clinical), business, Optic pathway glioma, Natural history study
-
11
المؤلفون: Tanya Karaconji, Eline Whist, John R. Grigg, Robyn V. Jamieson, Maree Flaherty
المصدر: Asia-Pacific Journal of Ophthalmology.
مصطلحات موضوعية: Optic Nerve Glioma, 0301 basic medicine, Neurofibromatosis 1, Standard of care, Population, Antineoplastic Agents, Ophthalmologic Surgical Procedures, Bioinformatics, Multidisciplinary team, 03 medical and health sciences, 0302 clinical medicine, Tumor predisposition syndrome, Humans, Mass Screening, Medicine, Neurofibromatosis, education, Protein Kinase Inhibitors, education.field_of_study, Neurofibromin 1, Choroid, business.industry, Neurocutaneous Disorder, Neurocutaneous Syndromes, General Medicine, medicine.disease, Ophthalmology, 030104 developmental biology, Treatment modality, 030220 oncology & carcinogenesis, Optic pathway glioma, business
-
12
المؤلفون: Clare L. Fraser, Frank A. Billson, Frank Martin, Anson Cheng, David Mowat, Bruce Bennetts, Robyn V. Jamieson, John R. Grigg, Katherine Holman, Alan Ma, Maree Flaherty, Elizabeth Farnsworth, Gladys Ho, James E. H. Smith, John Christodoulou, Ivan Prokudin
المصدر: Human Mutation
مصطلحات موضوعية: Male, 0301 basic medicine, Proband, PAX6 Transcription Factor, genetic structures, DNA Mutational Analysis, Inheritance Patterns, next‐generation sequencing, medicine.disease_cause, Microphthalmia, Connexins, Genes, X-Linked, Exome, Child, Research Articles, Genetics (clinical), Genetics, Mutation, High-Throughput Nucleotide Sequencing, Nuclear Proteins, eye, Pedigree, Microcornea, Phenotype, Child, Preschool, Proto-Oncogene Proteins c-maf, Congenital cataracts, Female, Research Article, Biology, Cataract, 03 medical and health sciences, Dysgenesis, Proto-Oncogene Proteins, medicine, Humans, microcornea, Amino Acid Sequence, Sclerocornea, Alleles, Genetic Association Studies, Genetic heterogeneity, Computational Biology, Membrane Proteins, medicine.disease, Crystallins, eye diseases, Repressor Proteins, 030104 developmental biology, congenital cataract, microphthalmia, sense organs
-
13
المؤلفون: Azura Ramlee, Susanne Pitz, Jane Ashworth, Maree Flaherty
المصدر: Acta Ophthalmologica. 93:e111-e117
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Intraocular pressure, Adolescent, genetic structures, Mucopolysaccharidosis, Optic Disk, Age at diagnosis, Glaucoma, Trabeculectomy, Tertiary Care Centers, Young Adult, Ophthalmology, Prevalence, Humans, Medicine, In patient, Child, Antihypertensive Agents, Intraocular Pressure, Organ system, Iridocorneal angle, Retrospective Studies, business.industry, Australia, Malaysia, Infant, General Medicine, Mucopolysaccharidoses, medicine.disease, eye diseases, Europe, medicine.anatomical_structure, Child, Preschool, Female, Ocular Hypertension, sense organs, Visual Fields, business, Optic disc
-
14
المؤلفون: Jane H. Lock, Carolyn A. Ross, Maree Flaherty
المصدر: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 22(6)
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Corneal Arcus, Ldlr gene, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, Cornea, Hyperlipoproteinemia Type II, 03 medical and health sciences, 0302 clinical medicine, Arcus Senilis, medicine, Humans, Genetic Testing, Genetic testing, medicine.diagnostic_test, Young child, business.industry, Homozygote, Follow up studies, Cholesterol, LDL, medicine.disease, Ophthalmology, Young age, Phenotype, Child, Preschool, Pediatrics, Perinatology and Child Health, 030221 ophthalmology & optometry, Female, business, Follow-Up Studies
-
15
المؤلفون: Robert Howman-Giles, Manjushree Bhate, Maree Flaherty, Neil Rowe
المصدر: Indian Journal of Ophthalmology, Vol 68, Iss 11, Pp 2607-2610 (2020)
Indian Journal of Ophthalmologyمصطلحات موضوعية: medicine.medical_specialty, mibg scan, business.industry, Suspected neuroblastoma, urinary vma levels, Horner syndrome, Diagnostic test, Neural crest, Case Reports, medicine.disease, neuroblastoma, Ophthalmology, lcsh:Ophthalmology, lcsh:RE1-994, Thoracic inlet mass, horner syndrome, Neuroblastoma, Nuclear medicine imaging, Urinary catecholamine, medicine, Radiology, business
-
16
المؤلفون: Jinlong Liang, James Snyder, Cong Yu, Yi Xie, Lyam Vazquez, Nada Abdel-Magid, Ivan Prokudin, Hakon Hakonarson, Robyn V. Jamieson, Brendan J. Keating, Fengxiang Wang, Craig Donaldson, Stephanie Crofts, Jun Wang, Yiran Guo, Maree Flaherty, Lifeng Tian
المصدر: Ophthalmic Genetics. 36:333-338
مصطلحات موضوعية: Proband, DNA Mutational Analysis, Leber Congenital Amaurosis, Molecular Sequence Data, Visual Acuity, Biology, Polymorphism, Single Nucleotide, Consanguinity, symbols.namesake, Retinitis pigmentosa, Electroretinography, medicine, Humans, Exome, Amino Acid Sequence, Child, Eye Proteins, Gene, Genetics (clinical), Exome sequencing, Sanger sequencing, Genetics, Base Sequence, Genetic heterogeneity, High-Throughput Nucleotide Sequencing, medicine.disease, Pedigree, Ophthalmology, Codon, Nonsense, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), symbols, Female
-
17
المؤلفون: Maree Flaherty, John R. Grigg, Vikrant Kumar, Cas Simons, James E. H. Smith, Rebecca Storen, Sonia Davila, Ivan Prokudin, Zai Y Phua, Robyn V. Jamieson
المصدر: European Journal of Human Genetics. 22:907-915
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Candidate gene, PAX6 Transcription Factor, DNA Mutational Analysis, Penetrance, Biology, Bioinformatics, Microphthalmia, Article, Connexins, Growth Differentiation Factor 3, Genetics, medicine, Humans, Paired Box Transcription Factors, Exome, gamma-Crystallins, Eye Proteins, Genetics (clinical), Exome sequencing, Homeodomain Proteins, Coloboma, Anophthalmia, Genetic heterogeneity, Eye Diseases, Hereditary, medicine.disease, eye diseases, Pedigree, Repressor Proteins, Cytochrome P-450 CYP1B1, Mutation, ATP-Binding Cassette Transporters, Female, sense organs
-
18
المؤلفون: Frank H. Collins, J. Pinner, Charlotte Claes, Isabelle Schrauwen, Manou Sommen, G. Van Camp, Maree Flaherty
المصدر: Clinical Genetics. 86:282-286
مصطلحات موضوعية: Proband, Sanger sequencing, Genetics, Mutation, Biology, LRP2, medicine.disease_cause, medicine.disease, Phenotype, eye diseases, symbols.namesake, medicine, symbols, Sensorineural hearing loss, Stickler syndrome, Genetics (clinical), Exome sequencing
-
19
المؤلفون: Stephanie Crofts, Katie Geering, John R. Grigg, Maree Flaherty
المصدر: Ophthalmic genetics. 38(4)
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, genetic structures, Adolescent, Mucopolysaccharidosis, Sly syndrome, Visual Acuity, Glaucoma, Short stature, Retina, Optic neuropathy, 03 medical and health sciences, 0302 clinical medicine, Corneal Opacity, medicine, Electroretinography, Humans, Genetics (clinical), Glucuronidase, Ultrasonography, Coarse facial features, business.industry, Macrocephaly, Mucopolysaccharidosis VII, Anatomy, medicine.disease, eye diseases, Ophthalmology, Pediatrics, Perinatology and Child Health, 030221 ophthalmology & optometry, sense organs, medicine.symptom, business, 030217 neurology & neurosurgery, Tomography, Optical Coherence, Retinopathy
-
20
المؤلفون: Adam Steinberg, Padraic Grattan-Smith, Elizabeth C. Engle, Maree Flaherty, Robyn V. Jamieson
المصدر: Ophthalmology. 108:1313-1322
مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Eye Movements, Genetic Linkage, Caudate nucleus, Basal Ganglia, Ptosis, Maldevelopment, Congenital fibrosis of the extraocular muscles, medicine, Blepharoptosis, Humans, Abnormalities, Multiple, Eye Abnormalities, Child, Cerebral Cortex, Chromosome Aberrations, Chromosomes, Human, Pair 12, Ophthalmoplegia, business.industry, Putamen, Anatomy, Cortical dysplasia, medicine.disease, Fibrosis, Magnetic Resonance Imaging, Hypoplasia, Pedigree, Ophthalmology, Oculomotor Muscles, Dysplasia, Child, Preschool, Female, Lod Score, medicine.symptom, business
Full Text Finder