-
1
المؤلفون: Andrea L Vincent, Charles N J McGhee, Jie Zhang, Aaron Pin Chien Ong
المصدر: Clinical & Experimental Ophthalmology. 49:477-497
مصطلحات موضوعية: 0301 basic medicine, Keratoconus, medicine.medical_specialty, genetic structures, Anterior megalophthalmos, 030105 genetics & heredity, Cornea, 03 medical and health sciences, Elevated intraocular pressure, Megalocornea, 0302 clinical medicine, Corneal thinning, Ophthalmology, Ciliary ring, medicine, Humans, Eye Abnormalities, business.industry, Hydrophthalmos, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, medicine.disease, eye diseases, Buphthalmos, 030221 ophthalmology & optometry, sense organs, business, Keratoglobus
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdfea6313505376d9dd57441c1ff8b1aTest
https://doi.org/10.1111/ceo.13958Test -
2
المؤلفون: Sarvesswaran Prakash, Banushree Ratukondla, Sindhura Reddy, Naresh Babu Kannan, Manju R Pillai, George Varghese Puthuran
المصدر: Journal of Glaucoma. 29:236-238
مصطلحات موضوعية: Heart Defects, Congenital, Male, Pediatrics, medicine.medical_specialty, genetic structures, Craniofacial abnormality, Developmental Disabilities, medicine.medical_treatment, Glaucoma, Trabeculectomy, Osteochondrodysplasias, Craniofacial Abnormalities, Consanguinity, 03 medical and health sciences, Megalocornea, 0302 clinical medicine, Frank–ter Haar syndrome, Exome Sequencing, Humans, Medicine, Sibling, Intraocular Pressure, Adaptor Proteins, Signal Transducing, business.industry, Siblings, Hydrophthalmos, Infant, Newborn, Infant, medicine.disease, Trabeculotomy, eye diseases, Ophthalmology, Mutation, 030221 ophthalmology & optometry, business, Brachycephaly, 030217 neurology & neurosurgery, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3845157dedca4ade1202c172700641fTest
https://doi.org/10.1097/ijg.0000000000001420Test -
3
المؤلفون: Changwon Kee, Jong Chul Han, Youngkyo Kwun, Eun Jung Lee
المصدر: Korean Journal of Ophthalmology : KJO
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Open angle glaucoma, genetic structures, Visual impairment, Population, Family history, Vision Disorders, Glaucoma, Optic neuropathy, 03 medical and health sciences, Megalocornea, Tonometry, Ocular, Young Adult, 0302 clinical medicine, Juvenile-onset open angle glaucoma, Ophthalmology, medicine, Visual field progression, Humans, education, Intraocular Pressure, Retrospective Studies, education.field_of_study, business.industry, General Medicine, medicine.disease, Prognosis, eye diseases, Buphthalmos, 030104 developmental biology, 030221 ophthalmology & optometry, Optic nerve, Disease Progression, Visual Field Tests, Original Article, Female, sense organs, medicine.symptom, Visual Fields, business, Glaucoma, Open-Angle, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd62d17f7143cda2715eae068fbae758Test
http://europepmc.org/articles/PMC4820523Test -
4
المؤلفون: Harminder S Dua, Giulio Pocobelli, Dalia G. Said, Marco Messina, Andrew R. Ross
المصدر: Journal of cataract and refractive surgery. 44(3)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Distance visual acuity, genetic structures, Pseudophakia, Long term follow up, medicine.medical_treatment, Visual Acuity, Intraocular lens, Cataract Extraction, Cataract, 03 medical and health sciences, Megalocornea, 0302 clinical medicine, Lens Implantation, Intraocular, Ophthalmology, medicine, Humans, In patient, cardiovascular diseases, Nylon sutures, business.industry, Siblings, Suture Techniques, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, Cataract surgery, Middle Aged, equipment and supplies, medicine.disease, eye diseases, Sensory Systems, Capsular bag, 030221 ophthalmology & optometry, Surgery, sense organs, business, 030217 neurology & neurosurgery, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::060b097e6d76d79e366c6d91725d51beTest
https://pubmed.ncbi.nlm.nih.gov/30368364Test -
5
المؤلفون: Brian J. Forbes, Gil Binenbaum, Georgia Wootton, Elaine H. Zackai, Donna M. McDonald-McGinn, Lindsay Dawson
المصدر: Journal of American Association for Pediatric Ophthalmology and Strabismus. 20:278-280
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, genetic structures, Chromosomes, Human, Pair 22, Physical examination, Nystagmus, 030204 cardiovascular system & hematology, 03 medical and health sciences, Megalocornea, 0302 clinical medicine, DiGeorge syndrome, Ophthalmology, Chromosome Duplication, Gene duplication, DiGeorge Syndrome, medicine, Humans, Abnormalities, Multiple, Eye Abnormalities, Child, Strabismus, Physical Examination, Optic Disk Drusen, Retrospective Studies, medicine.diagnostic_test, business.industry, Infant, medicine.disease, Dilated fundus examination, eye diseases, Child, Preschool, Pediatrics, Perinatology and Child Health, 030221 ophthalmology & optometry, Female, sense organs, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::025de06b90370c10d86b2dba716a4bdbTest
https://doi.org/10.1016/j.jaapos.2016.02.003Test -
6
المؤلفون: Nitin V Trivedi, Girish P Nehete
المصدر: Indian Journal of Ophthalmology, Vol 64, Iss 9, Pp 692-694 (2016)
Indian Journal of Ophthalmologyمصطلحات موضوعية: 0301 basic medicine, Chorioretinal coloboma, Male, medicine.medical_specialty, Choristoma, Adolescent, genetic structures, Vision Disorders, Visual Acuity, Nevus, Sebaceous of Jadassohn, Limbus Corneae, Brief Communication, Foreign body sensation, Retina, 03 medical and health sciences, Megalocornea, 0302 clinical medicine, lcsh:Ophthalmology, Nevus sebaceous, medicine, Humans, skin and connective tissue diseases, complex limbal choristoma, business.industry, Choroid, Eye Neoplasms, Posterior Eye Segment, Melanocytic nevus, medicine.disease, Dermatology, Neoplasms, Complex and Mixed, eye diseases, Coloboma, Ophthalmology, 030104 developmental biology, medicine.anatomical_structure, lcsh:RE1-994, nevus sebaceous, 030221 ophthalmology & optometry, Forehead, Linear nevus sebaceous syndrome, sense organs, business, Sclera, Dilatation, Pathologic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3e421af6e6f585b42804019381bfb5cTest
http://www.ijo.in/article.asp?issn=0301-4738;year=2016;volume=64;issue=9;spage=692;epage=694;aulast=TrivediTest -
7
المؤلفون: Kathryn P. Burdon, Sandra E Staffieri, David A. Mackey, John Pater, Lisa A Kearns, Jonathan B Ruddle, Alessandra Del Longo, Andrew Narita, Alex W. Hewitt, Deepa A Taranath, Angela J Chappell, Lucia Mauri, Owen M. Siggs, James E. Elder, Julian L Rait, Andrew Dubowsky, Francesca Pasutto, James E. H. Smith, Jamie E Craig, André Reis, Emmanuelle Souzeau
المصدر: JAMA Ophthalmology. 137:348
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, CYP1B1, Glaucoma, 01 natural sciences, Young Adult, 03 medical and health sciences, Megalocornea, 0302 clinical medicine, Prevalence, medicine, Humans, 0101 mathematics, Young adult, Child, Exome sequencing, business.industry, Genetic heterogeneity, 010102 general mathematics, Australia, Forkhead Transcription Factors, medicine.disease, eye diseases, Ophthalmology, Clinical research, Cohort, 030221 ophthalmology & optometry, Female, sense organs, business, New Zealand
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d50c8d41ee991e28dc1a444908298885Test
https://doi.org/10.1001/jamaophthalmol.2018.5646Test -
8
المؤلفون: Ramdani Toufik, Maadane Asmae, Mouhoub Imane, Sekhsoukh Rachid
المصدر: Pan African Medical Journal; Vol 24, No 1 (2016)
The Pan African Medical Journal
The Pan African Medical Journal, Vol 24, Iss 293 (2016)مصطلحات موضوعية: medicine.medical_specialty, genetic structures, Visual Acuity, Case Report, œdème papillaire, Neurosurgical Procedures, 03 medical and health sciences, Megalocornea, 0302 clinical medicine, Arnold Chiari, medicine, Humans, microcorie, 030212 general & internal medicine, Child, Papilledema, microcoria, Chiari malformation, Diplopia, lcsh:R5-920, business.industry, lcsh:Public aspects of medicine, lcsh:RA1-1270, General Medicine, Microcoria, medicine.disease, Magnetic Resonance Imaging, Syringomyelia, eye diseases, Arnold-Chiari Malformation, Hydrocephalus, Surgery, Treatment Outcome, édème papillaire, Female, medicine.symptom, lcsh:Medicine (General), business, papillary oedema, 030217 neurology & neurosurgery, Torticollis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8197c2d532e2cf9037d50b2ce1b87818Test
https://doi.org/10.11604/pamj.2016.24.293.7415Test -
9
المؤلفون: Anthony T. Moore, Stephen J Tuft, Alison J. Hardcastle, Graham E. Holder, Anthony G. Robson, Jonathan B Ruddle, Sanjay M. Sisodiya, Mahinda Yogarajah, Seyhan Yazar, Wei Ang, Michael E. Cheetham, Jane C. Sowden, Chiea Chuen Khor, Elias I. Traboulsi, Tin Aung, Jessica C. Gardner, Tom R. Webb, Hala Hassan, Mar Matarin, Michel Michaelides, Daniel Kelberman, Craig E. Pennell, David A. Mackey
المصدر: The American Journal of Human Genetics. 90:247-259
مصطلحات موضوعية: Adult, Male, Cerebellum, DNA Copy Number Variations, Molecular Sequence Data, Quantitative Trait Loci, Nerve Tissue Proteins, Biology, Article, Retina, Corneal Diseases, Cornea, White matter, Young Adult, 03 medical and health sciences, Megalocornea, 0302 clinical medicine, Anterior Eye Segment, Genes, X-Linked, Intellectual Disability, Genetics, medicine, Humans, Genetics(clinical), Eye Abnormalities, Eye Proteins, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Neocortex, Base Sequence, Cerebral Palsy, Deep anterior chamber, Brain, Genetic Diseases, X-Linked, Anatomy, Middle Aged, medicine.disease, Megalencephaly, Pedigree, Phenotype, medicine.anatomical_structure, Mutation, 030221 ophthalmology & optometry, Female, sense organs
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51c3e2b945b77d27185144af594b16d3Test
https://doi.org/10.1016/j.ajhg.2011.12.019Test -
10
المصدر: Journal of Clinical Research in Pediatric Endocrinology
مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, endocrine system diseases, Wolfram syndrome, phenotype, Endocrinology, Diabetes and Metabolism, genotype, DNA Mutational Analysis, Mutation, Missense, 030209 endocrinology & metabolism, Case Report, 03 medical and health sciences, Megalocornea, 0302 clinical medicine, Endocrinology, Atrophy, Internal medicine, medicine, otorhinolaryngologic diseases, Missense mutation, Humans, Genetic Predisposition to Disease, business.industry, Autosomal dominant trait, nutritional and metabolic diseases, Membrane Proteins, medicine.disease, Wolfram-like syndrome, 3. Good health, Child, Preschool, Pediatrics, Perinatology and Child Health, Failure to thrive, 030221 ophthalmology & optometry, Nephrocalcinosis, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87e3f6f174049ab1f46fe41e014d08c1Test
http://europepmc.org/articles/PMC5198010Test