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المؤلفون: Daniel R. Evans, Jane S. Green, Somayyeh Fahiminiya, Jacek Majewski, Bridget A. Fernandez, Matthew A. Deardorff, Gordon J. Johnson, James H. Whelan, Dirk Hubmacher, Suneel S. Apte, Care4Rare Canada Consortium, Michael O. Woods
المصدر: Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-9 (2020)مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Bodily Secretions, Canada, Population, Mutation, Missense, lcsh:Medicine, Short stature, Article, Fingers, ADAMTS Proteins, Exome Sequencing, Genetics research, medicine, Missense mutation, Humans, Ectopia lentis, education, lcsh:Science, Exome sequencing, education.field_of_study, Multidisciplinary, Anthropometry, business.industry, Brachydactyly, lcsh:R, Medical genetics, Hereditary eye disease, medicine.disease, Weill–Marchesani syndrome, Weill-Marchesani Syndrome, Microspherophakia, HEK293 Cells, Phenotype, lcsh:Q, Female, medicine.symptom, business
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المؤلفون: Jyoti Shah, Gordon J. Johnson, Suzanne Gilbert
المصدر: Ophthalmic Epidemiology. 28:1-2
مصطلحات موضوعية: medicine.medical_specialty, Epidemiology, business.industry, education, Trustees, History, 20th Century, History, 21st Century, Ophthalmology, Humans, Medicine, business, health care economics and organizations
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المؤلفون: Jacek Majewski, Jeremy Schwartzentruber, Daniel R. Evans, Kym M. Boycott, Chandree L. Beaulieu, Jane Green, Justin French, Andrew D. Paterson, Michael O. Woods, Tara Paton, Gordon J. Johnson, Somayyeh Fahiminiya, Wen Qin, Nicole M. Roslin, Christian R. Marshall
المصدر: Investigative ophthalmologyvisual science. 58(3)
مصطلحات موضوعية: 0301 basic medicine, Male, Genetic Linkage, Locus (genetics), Genes, Recessive, Biology, Severity of Illness Index, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Proto-Oncogene Proteins, Retinitis pigmentosa, medicine, Humans, Exome, Copy-number variation, Amino Acid Sequence, Exome sequencing, Sequence Deletion, Sanger sequencing, Genetics, c-Mer Tyrosine Kinase, Reverse Transcriptase Polymerase Chain Reaction, Receptor Protein-Tyrosine Kinases, DNA, MERTK, medicine.disease, Pedigree, MERTK Gene, 030104 developmental biology, 030221 ophthalmology & optometry, symbols, Disease Progression, Female, Retinitis Pigmentosa
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b44f122e2d4caea14e6f87555aeccf35
https://pubmed.ncbi.nlm.nih.gov/28324114 -
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المؤلفون: Uranchimeg Davaatseren, Jennifer L.Y. Yip, Paul J. Foster, Peng T. Khaw, Winifred P. Nolan, Jamyanjav Baasankhuu, Pak Sang Lee, Gordon J. Johnson, Clare Gilbert
المصدر: Ophthalmic Epidemiology. 18:217-225
مصطلحات موضوعية: Male, Refractive error, medicine.medical_specialty, Intraocular pressure, genetic structures, Epidemiology, Glaucoma, Physical examination, Risk Factors, Ophthalmology, Prevalence, Gonioscopy, Humans, Medicine, Aged, Aged, 80 and over, Univariate analysis, medicine.diagnostic_test, business.industry, Mongolia, Diabetic retinopathy, Middle Aged, medicine.disease, eye diseases, Confidence interval, Cross-Sectional Studies, Educational Status, Regression Analysis, Optometry, Female, sense organs, Glaucoma, Angle-Closure, business
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المؤلفون: Terry-Lynn Young, Patrick S. Parfrey, Gordon J. Johnson, Jane Green, Lance P. Doucette, Bridget A. Fernandez
المصدر: European Journal of Human Genetics. 19:293-299
مصطلحات موضوعية: Adult, Male, Candidate gene, Newfoundland and Labrador, Haploinsufficiency, Biology, medicine.disease_cause, Cataract, Article, Young Adult, Dysgenesis, Corneal Opacity, Anterior Eye Segment, Lens, Crystalline, Genetics, medicine, Humans, Point Mutation, Eye Abnormalities, Allele, Child, Alleles, Genetics (clinical), Aged, Mutation, Point mutation, Autosomal dominant trait, Forkhead Transcription Factors, Sequence Analysis, DNA, Middle Aged, Stop codon, Phenotype, Female, Follow-Up Studies
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المؤلفون: Erna Van Logkem, Gordon J. Johnson, Bodil Larsen, RonaldMichael Newton, William Pryse-Phillips
المصدر: Clinical Genetics. 15:513-517
مصطلحات موضوعية: Male, Recombination, Genetic, Linkage (software), Genetics, Genetic Linkage, Biology, medicine.disease, Myotonic dystrophy, Pedigree, Genetic marker, Genetic linkage, medicine, Humans, Myotonic Dystrophy, Female, Saliva, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47bef89213a8e811c8b537171e5f16dc
https://doi.org/10.1111/j .1399-0004.1979.tb00835.x -
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المؤلفون: Rupert R A Bourne, Brendan Dineen, Gordon J. Johnson, Shaheen P. Shah, M. Z. Jadoon, Khan, Clare Gilbert
المصدر: Ophthalmic Epidemiology. 15:183-190
مصطلحات موضوعية: Male, medicine.medical_specialty, Refractive error, Visual acuity, genetic structures, Epidemiology, Hypermetropia, Visual impairment, Astigmatism, Fundus (eye), Severity of Illness Index, Age Distribution, Ophthalmology, Myopia, medicine, Humans, Pakistan, Demography, Health Services Needs and Demand, business.industry, Spectacle, Middle Aged, Refractive Errors, medicine.disease, Health Surveys, eye diseases, Eyeglasses, Hyperopia, Treatment Outcome, Optometry, Female, Cluster sampling, medicine.symptom, business
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المؤلفون: Gordon J. Johnson, Paul S. Russell, Samuel D. Nelson
المصدر: Annals of the New York Academy of Sciences. 129:368-385
مصطلحات موضوعية: Matching (statistics), History and Philosophy of Science, Chemistry, business.industry, General Neuroscience, Pattern recognition, Artificial intelligence, business, General Biochemistry, Genetics and Molecular Biology, Histocompatibility
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d929651e4fda05dbdb63fca367bb7470
https://doi.org/10.1111/j .1749-6632.1966.tb12865.x -
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المؤلفون: Gordon J. Johnson, Winifred P. Nolan, Steve K. L. Seah, David Machin, Paul J. Foster, Peng T. Khaw, Tin Aung
المصدر: American Journal of Ophthalmology. 141:896-901
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Screening test, Anterior Chamber, Population, Gonioscopy, Glaucoma, Diagnostic Techniques, Ophthalmological, Limbus Corneae, Refraction, Ocular, Sensitivity and Specificity, Asian People, Predictive Value of Tests, Ophthalmology, Prevalence, Humans, Medicine, False Positive Reactions, education, Aged, Ultrasonography, Singapore, education.field_of_study, medicine.diagnostic_test, Receiver operating characteristic, business.industry, Ultrasound, Reproducibility of Results, Middle Aged, medicine.disease, Confidence interval, Cross-Sectional Studies, Area Under Curve, Predictive value of tests, Female, Glaucoma, Angle-Closure, business
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المؤلفون: Esther A. N. Aryee, David Mabey, Hannah Faal, O Jallow, Neal Alexander, Usman N. Ikumapayi, Matthew J. Burton, Ansumana Sillah, Gordon J. Johnson, F Kinteh, Robin L. Bailey, M Faye, Momodou Bah, Richard A. Adegbola, Allen Foster
المصدر: British Journal of Ophthalmology. 89:1282-1288
مصطلحات موضوعية: Male, medicine.medical_specialty, Eye disease, Azithromycin, medicine.disease_cause, Severity of Illness Index, Eye Infections, Bacterial, law.invention, Clinical Science - Extended Reports, Cellular and Molecular Neuroscience, Randomized controlled trial, law, Severity of illness, Epidemiology, Secondary Prevention, medicine, Humans, Trichiasis, Aged, Postoperative Care, Trachoma, Eyelashes, Bacteria, business.industry, Editorials, Middle Aged, Conjunctivitis, medicine.disease, Sensory Systems, Anti-Bacterial Agents, Surgery, Ophthalmology, Disease Progression, Eyelid Diseases, Female, Gambia, Hair Diseases, business, Chlamydia trachomatis, Conjunctiva, Follow-Up Studies, medicine.drug