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1
المؤلفون: Anna Galanopoulos, Paul R. Healey, Ashish Agar, Farshad Abedi, Alex W. Hewitt, Stuart L. Graham, Lachlan S.W. Knight, Robert J Casson, Angela Schulz, Thi Nguyen, Owen M. Siggs, Antonia Kolovos, John Landers, Henry Marshall, Jamie E Craig, Angela J Chappell, Mona S Awadalla, Ayub Qassim, Sean Mullany, Mark M. Hassall
المصدر: Ophthalmology. 128:993-1004
مصطلحات موضوعية: medicine.medical_specialty, genetic structures, Nerve fiber layer, Glaucoma, Physical examination, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Ophthalmology, Cornea, Medicine, Prospective cohort study, 030304 developmental biology, 0303 health sciences, medicine.diagnostic_test, business.industry, Retinal, medicine.disease, eye diseases, Ganglion, medicine.anatomical_structure, chemistry, 030221 ophthalmology & optometry, sense organs, business, Optic disc
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3be989af04385e1d60d9f05b77b1af03Test
https://doi.org/10.1016/j.ophtha.2020.11.021Test -
2
المؤلفون: Paul R. Healey, Antonia Kolovos, Xikun Han, Alex W. Hewitt, Puya Gharahkhani, Thi Nguyen, Robert J Casson, John Landers, Ashish Agar, Angela Schulz, Owen M. Siggs, Anna Galanopoulos, Henry Marshall, Stuart MacGregor, Sean Mullany, Stuart L. Graham, Mona S Awadalla, Jamie E Craig, Ayub Qassim, Emmanuelle Souzeau, Mark M. Hassall
المصدر: Ophthalmology Glaucoma. 4:411-420
مصطلحات موضوعية: medicine.medical_specialty, Intraocular pressure, genetic structures, Manometry, Glaucoma, Goldmann applanation tonometry, Tonometry, Ocular, Risk Factors, Ophthalmology, medicine, Humans, Outpatient clinic, Prospective Studies, Intraocular Pressure, Aged, Morning, business.industry, Reproducibility of Results, General Medicine, Odds ratio, Middle Aged, medicine.disease, eye diseases, Confidence interval, Cross-Sectional Studies, Polygenic risk score, sense organs, business, Glaucoma, Open-Angle
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d26c9b025e6806aeac2955a87e87af8Test
https://doi.org/10.1016/j.ogla.2020.12.002Test -
3
المؤلفون: Ella C. Berry, Lachlan S.W. Knight, Jamie E Craig, Sonja Klebe, Andrew Dubowsky, Matthew Hussey, Ayub Qassim, Sean Mullany, James Breen, Mark M. Hassall, Emmanuelle Souzeau, Richard A. Mills, Henry Marshall, Tiger Zhou, Owen M. Siggs
المصدر: Human Mutation. 42:818-826
مصطلحات موضوعية: Proband, Pathology, medicine.medical_specialty, Amyloid, Locus (genetics), Biology, 03 medical and health sciences, Genetics, medicine, Humans, Finland, Gelsolin, Genetics (clinical), Exome sequencing, 030304 developmental biology, Corneal Dystrophies, Hereditary, 0303 health sciences, Amyloidosis, 030305 genetics & heredity, Genetic Variation, medicine.disease, Phenotype, Calcium, Cutis laxa
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb0e4e5de583b82efa1a3733590de649Test
https://doi.org/10.1002/humu.24214Test -
4
المؤلفون: Bronwyn Ridge, Anna Galanopoulos, Sean Mullany, Stuart MacGregor, Paul R. Healey, Mona S Awadalla, John Landers, Owen M. Siggs, Ashish Agar, Stuart L. Graham, Nicholas H Andrew, Jamie E Craig, Thi Nguyen, Ayub Qassim, Angela Shulz, Alex W. Hewitt, Mark M. Hassall, Richard A. Mills, Robert J Casson, Henry Marshall
المصدر: Ophthalmology. 128:58-69
مصطلحات موضوعية: Male, Retinal Ganglion Cells, Intraocular pressure, medicine.medical_specialty, Longitudinal study, Time Factors, Visual acuity, genetic structures, Optic Disk, Visual Acuity, Optic disk, Glaucoma, 03 medical and health sciences, Nerve Fibers, 0302 clinical medicine, Ophthalmology, Humans, Medicine, Prospective Studies, Risk factor, Prospective cohort study, Intraocular Pressure, Aged, 030304 developmental biology, 0303 health sciences, business.industry, Odds ratio, Middle Aged, Prognosis, medicine.disease, eye diseases, Cardiovascular Diseases, Disease Progression, 030221 ophthalmology & optometry, Female, sense organs, medicine.symptom, business, Tomography, Optical Coherence, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54b7038b3cb4ccddcb0e70be7bbce6f5Test
https://doi.org/10.1016/j.ophtha.2020.06.067Test -
5
المؤلفون: Emmanuelle Souzeau, Shannon Le Blanc, Jamie E Craig, Owen M. Siggs, Francesca Pasutto, Lesley M McGregor, Luis A. Pérez-Jurado, Jan Liebelt, Christopher P. Barnett, Lachlan S.W. Knight
المصدر: American Journal of Medical Genetics Part A. 185:434-439
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, PITX2, business.industry, Genetic counseling, Glaucoma, Axenfeld-Rieger syndrome, Telecanthus, 030105 genetics & heredity, medicine.disease, Dermatology, eye diseases, stomatognathic diseases, 03 medical and health sciences, Facial dysmorphism, 030104 developmental biology, Genetics, medicine, sense organs, Hypertelorism, medicine.symptom, business, Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1286e0d96934b7e70a3d0175c4e8b2feTest
https://doi.org/10.1002/ajmg.a.61982Test -
6
المؤلفون: Ayub Qassim, Owen M. Siggs
المصدر: The Biochemist. 42:26-30
مصطلحات موضوعية: genetic structures, business.industry, medicine, Glaucoma, sense organs, Genetic risk, medicine.disease, Bioinformatics, business, eye diseases, General Biochemistry, Genetics and Molecular Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6fbd6f54284cbf9de9536a49b9de672cTest
https://doi.org/10.1042/bio20200063Test -
7
المؤلفون: Lisa S. Kearns, Deepa A Taranath, Sandra E Staffieri, Angela J Chappell, Jillian Nicholl, James E. H. Smith, Emmanuelle Souzeau, Andrew Narita, Kathryn P. Burdon, James E. Elder, Tiger Zhou, Alex W. Hewitt, Jamie E Craig, Jonathan B Ruddle, David A. Mackey, Andrew Dubowsky, Shari Javadiyan, John Pater, Owen M. Siggs
المصدر: Ophthalmology. 127:758-766
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Open angle glaucoma, Glaucoma, Polymorphism, Single Nucleotide, Young Adult, Gene Frequency, Anterior Eye Segment, medicine, Humans, Exome, alpha-Macroglobulins, Eye Abnormalities, Child, Retrospective Studies, Juvenile open angle, Hydrophthalmos, business.industry, Infant, Newborn, Infant, Complement C3, Sequence Analysis, DNA, medicine.disease, Pedigree, Eye abnormality, Ophthalmology, Phenotype, Trypsin Inhibitor, Kazal Pancreatic, Alpha macroglobulins, Child, Preschool, RNA, Female, business, Glaucoma, Open-Angle
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f32e9ae1985f09ea21ffe7c3307e16b5Test
https://doi.org/10.1016/j.ophtha.2019.12.024Test -
8
المؤلفون: Daniel G. MacArthur, Abraham Kuot, Kate J. Laurie, Jamie E Craig, Lisa S. Kearns, Sandra E Staffieri, Robert J Casson, Erica Mancel, Joanne Dondey, Ayub Qassim, Thomas L Edwards, Jonathan B Ruddle, Mark J Walland, Emmanuelle Souzeau, Richard A. Mills, Anna Galanopoulous, Owen M. Siggs, Mona S Awadalla, Michael Coote, Kathryn P. Burdon
المصدر: Clin Genet
مصطلحات موضوعية: Male, 0301 basic medicine, Proband, 030105 genetics & heredity, Biology, Eye, Microphthalmia, Article, Frameshift mutation, Cohort Studies, 03 medical and health sciences, Genetics, medicine, Humans, Microphthalmos, Frameshift Mutation, Genetics (clinical), Exome sequencing, Haplotype, Australia, Membrane Proteins, Eye Diseases, Hereditary, medicine.disease, Genetic architecture, Pedigree, Hyperopia, 030104 developmental biology, Cohort, Female, Serine Proteases, Glaucoma, Angle-Closure, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90c49f83702a6f9709040b5267f02683Test
https://doi.org/10.1111/cge.13722Test -
9
المؤلفون: Bronwyn Ridge, David A. Mackey, Stuart MacGregor, Georgina L. Hollitt, Miriam C Keane, Owen M. Siggs, Alex W. Hewitt, Emmanuelle Souzeau, Jamie E Craig
مصطلحات موضوعية: education.field_of_study, medicine.medical_specialty, genetic structures, medicine.diagnostic_test, business.industry, Population, Glaucoma, medicine.disease, eye diseases, Test (assessment), Clinical Practice, Eye examination, Health care, medicine, Polygenic risk score, Genetic risk, education, business, Psychiatry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0b28f4a129b5179d0bc800744ca17fecTest
https://doi.org/10.1101/2021.10.19.21264544Test -
10
المؤلفون: Owen M. Siggs, Stuart MacGregor, David A. Mackey, Puya Gharahkhani, Sean Mullany, Jamie E Craig, Ayub Qassim, Xikun Han, Alex W. Hewitt, Emmanuelle Souzeau, Henry Marshall, Shilpa Kuruvilla
المصدر: JAMA Ophthalmol
مصطلحات موضوعية: medicine.medical_specialty, genetic structures, Open angle glaucoma, Population, Glaucoma, Odds, Internal medicine, Genetic variation, medicine, Prevalence, Humans, education, Eye Proteins, Intraocular Pressure, Glycoproteins, education.field_of_study, business.industry, Brief Report, Australia, Odds ratio, medicine.disease, Biobank, eye diseases, Ophthalmology, Cytoskeletal Proteins, Cross-Sectional Studies, Mutation, business, Glaucoma, Open-Angle, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f7d7eab9f1c93d92687e6ce3a75bb46Test
https://pubmed.ncbi.nlm.nih.gov/34264281Test