المؤلفون: Anna M. Waldie, Nicholas S. Little, Matti L Gild, Oliver Lau, Roderick J. Clifton-Bligh, James E. H. Smith, Mark Thieben, Janice Brewer

المصدر: Neuroophthalmology

مصطلحات موضوعية: Pituitary gland, Pathology, medicine.medical_specialty, Palsy, genetic structures, business.industry, Hypophysitis, Neuroendocrine disorder, Autoimmune inflammation, Case Reports, Hypopituitarism, medicine.disease, eye diseases, 03 medical and health sciences, Ophthalmology, 0302 clinical medicine, medicine.anatomical_structure, 030221 ophthalmology & optometry, Autoimmune hypophysitis, Medicine, Neurology (clinical), business, Abducens nerve, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::932694347c33044f398a68ad00c5f844Test
https://doi.org/10.1080/01658107.2018.1561721Test

المؤلفون: Mark Y. Chiang, Glen A. Gole, Jamie E Craig, Lachlan S.W. Knight, Faren Willett, David A. Mackey, James E. H. Smith, Ayub Qassim, James Breen, Sandra E Staffieri, Guy D’Mellow, James E. Elder, Sean Mullany, Andrea L Vincent, Jonathan B Ruddle, Ivan Goldberg, Owen M. Siggs, Lisa S. Kearns, Susie Luu, Emmanuelle Souzeau, Deepa A Taranath

المصدر: Ophthalmology. 128(11)

مصطلحات موضوعية: Proband, Male, Pediatrics, medicine.medical_specialty, genetic structures, Adolescent, Genotype, Genetic counseling, CYP1B1, Glaucoma, Disease registry, medicine, Humans, Genetic Testing, Registries, Child, Eye Proteins, Intraocular Pressure, Genetic testing, Retrospective Studies, medicine.diagnostic_test, business.industry, Australia, Infant, Newborn, Infant, Genetic Profile, medicine.disease, eye diseases, Pedigree, Ophthalmology, Phenotype, Child, Preschool, Cohort, Mutation, Female, sense organs, business, New Zealand

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::942b8b5c884f66f28a4351a36e2c604eTest
https://pubmed.ncbi.nlm.nih.gov/33892047Test

المؤلفون: Paul Giles, Emmanuelle Souzeau, Andrew Dubowsky, Lisa S. Kearns, Richard A. Mills, Jamie E Craig, Alex W. Hewitt, Trevor Hodson, Sandra E Staffieri, James E. H. Smith, Vivek Phakey, John Landers, James E. Elder, Owen M. Siggs, Tiger Zhou, Deepa A Taranath, Anna Galanopoulos, Jonathan B Ruddle, Kathryn P. Burdon, Julian L Rait, David A. Mackey, John Pater

المصدر: European Journal of Human Genetics

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, genetic structures, Genetic counseling, Glaucoma, Penetrance, Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Prevalence, Genetics, medicine, Humans, Copy-number variation, 10. No inequality, Genetics (clinical), Aged, Genetic testing, Homeodomain Proteins, medicine.diagnostic_test, Genetic heterogeneity, Age Factors, Forkhead Transcription Factors, Middle Aged, medicine.disease, eye diseases, Genetic architecture, Pedigree, 3. Good health, stomatognathic diseases, 030104 developmental biology, Cohort, 030221 ophthalmology & optometry, Female, sense organs, Corrigendum, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::301542206ed9e5e37dd8a06e9276aa86Test
https://doi.org/10.1038/ejhg.2017.59Test

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e83471a6bb0c48f6587fd36e72631b1Test
https://doi.org/10.1002/humu.22948Test

المؤلفون: Chu Luan Nguyen, James E. H. Smith, Noni Lewis, Khoi Tran, Tony S. Chen

المصدر: Case Reports in Ophthalmological Medicine
Case Reports in Ophthalmological Medicine, Vol 2018 (2018)

مصطلحات موضوعية: medicine.medical_specialty, Triamcinolone acetonide, Photophobia, Bevacizumab, genetic structures, Corneal Infiltrates, Meibomian gland, Case Report, 030226 pharmacology & pharmacy, 03 medical and health sciences, 0302 clinical medicine, lcsh:Ophthalmology, Ophthalmology, medicine, Blepharitis, business.industry, General Medicine, medicine.disease, eye diseases, Frequent blinking, medicine.anatomical_structure, lcsh:RE1-994, Corneal neovascularization, 030221 ophthalmology & optometry, sense organs, medicine.symptom, business, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::044614c88d48270eb0d5a13fd4a09410Test
http://europepmc.org/articles/PMC6008772Test

المؤلفون: James E. H. Smith, Angela J Chappell, Tiger Zhou, Kathryn P. Burdon, James E. Elder, Owen M. Siggs, Lisa S. Kearns, Shari Javadiyan, Jonathan B Ruddle, John Pater, David A. Mackey, Sandra E Staffieri, Andrew Narita, Alex W. Hewitt, Deepa A Taranath, Andrew Dubowsky, Jamie E Craig, Emmanuelle Souzeau

مصطلحات موضوعية: 0303 health sciences, medicine.medical_specialty, Congenital glaucoma, Intraocular pressure, genetic structures, business.industry, 030305 genetics & heredity, Glaucoma, Disease, medicine.disease, Compound heterozygosity, eye diseases, 03 medical and health sciences, Dysgenesis, Ophthalmology, medicine, sense organs, Ectopia lentis, business, Exome sequencing, 030304 developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f50d008ff1aaacf7efb07832171d0ab4Test
https://doi.org/10.1101/297077Test

المؤلفون: Frank Martin, James E. H. Smith, Sophia Zagora, Anne Sophie Veillard, Robyn V. Jamieson, Charlotte L. Funnell, Francis A. Billson, John R. Grigg, Stephen Hing

المصدر: American journal of ophthalmology. 159(4)

مصطلحات موضوعية: Male, medicine.medical_specialty, Intraocular pressure, Visual acuity, Time Factors, genetic structures, Adolescent, Gonioscopy, Visual Acuity, Glaucoma, Subgroup analysis, Trabeculectomy, Cohort Studies, Tonometry, Ocular, Young Adult, Interquartile range, medicine, Humans, Child, Glaucoma Drainage Implants, Intraocular Pressure, Retrospective Studies, Laser Coagulation, business.industry, Medical record, Ciliary Body, Age Factors, Hydrophthalmos, Infant, Retrospective cohort study, medicine.disease, Surgery, Ophthalmology, medicine.anatomical_structure, Treatment Outcome, Child, Preschool, Female, medicine.symptom, business, Optic disc, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23e3fcf48112cda08bdeaa707f931e87Test
https://pubmed.ncbi.nlm.nih.gov/25634533Test

المؤلفون: Paul Mitchell, Frank Martin, Yemima Berman, David Taylor, Hēlène Saglibène, Lesley C. Adès, James E. H. Smith, Isabelle Missotte, Tien Tay

المصدر: Clinicalexperimental ophthalmology. 35(4)

مصطلحات موضوعية: Adult, Male, Refractive error, medicine.medical_specialty, Visual acuity, genetic structures, Population, Vision Disorders, Black People, Astigmatism, New Caledonia, Ophthalmology, Medicine, Humans, Microphthalmos, Prospective Studies, education, Dioptre, Anisometropia, education.field_of_study, business.industry, Infant, Middle Aged, medicine.disease, Dilated fundus examination, Refractive Errors, eye diseases, Child, Preschool, Optometry, Female, medicine.symptom, business, Esotropia, Visually Impaired Persons

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a70243a87f1845f5ddb39d3f648ebd1Test
https://pubmed.ncbi.nlm.nih.gov/17539787Test

المؤلفون: Frank A. Billson, Frank Martin, Craig Donaldson, Brighu N. Swamy, Robyn V. Jamieson, Stephen Hing, James E. H. Smith, John R. Grigg

المصدر: The British journal of ophthalmology. 91(12)

مصطلحات موضوعية: Adult, Male, Intraocular pressure, medicine.medical_specialty, Time Factors, genetic structures, Adolescent, medicine.medical_treatment, Glaucoma, Intraocular lens, Cataract Extraction, Kaplan-Meier Estimate, Cataract, Cornea, Cellular and Molecular Neuroscience, Lens Implantation, Intraocular, Predictive Value of Tests, Risk Factors, Ophthalmology, medicine, Prevalence, Humans, Child, Proportional Hazards Models, Retrospective Studies, business.industry, Age Factors, Infant, Cataract surgery, medicine.disease, Sensory Systems, eye diseases, Surgery, Microcornea, Extended Report, Vitreous Body, Editorial, Persistent hyperplastic primary vitreous, Child, Preschool, Capsulotomy, Congenital cataracts, Regression Analysis, Female, sense organs, business, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::747f22145957eef125aebe21d58b7797Test
https://pubmed.ncbi.nlm.nih.gov/18024804Test

المؤلفون: Stephanie L Martin, Brett A Hines, Ian A Burgess, James E H Smith

المصدر: Medical Journal of Australia. 169:385-386

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, genetic structures, Eye disease, Gestational Age, Cataract, Ultrasonography, Prenatal, Cataracts, Pregnancy, Lens, Crystalline, Humans, Medicine, Fetus, business.industry, Metabolic disorder, Infant, Newborn, Gestational age, General Medicine, medicine.disease, eye diseases, Surgery, Congenital cataracts, Gestation, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdd0d5e068e1084652ded5d97974d21aTest
https://doi.org/10.5694/j.1326-5377.1998.tb126810.xTest