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المؤلفون: Lidija Neskovska, Orhideja Stomnaroska
المصدر: PRILOZI. 42:91-94
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Potocki–Lupski syndrome, Muscle Hypotonia, Autism Spectrum Disorder, Heart malformation, Chromosome Disorders, Contiguous gene syndrome, Megalocornea, Chromosome Duplication, Intellectual disability, medicine, Humans, Abnormalities, Multiple, Comparative Genomic Hybridization, business.industry, Infant, Newborn, Infant, medicine.disease, Hypotonia, Failure to thrive, Female, Smith-Magenis Syndrome, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18fecc02ec5562d0fa3a34fffdede983Test
https://doi.org/10.2478/prilozi-2021-0026Test -
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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 -
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المؤلفون: Jiahui Chen, Zexu Chen, Jia-Lei Zheng, Michael Deng, Yinghong Ji, Tianhui Chen, Yongxiang Jiang, Min Zhang
المصدر: Ophthalmic Research. 64:811-819
مصطلحات موضوعية: Marfan syndrome, Biometry, Adolescent, Visual Acuity, Standard score, Positive correlation, Ectopia Lentis, Marfan Syndrome, Young Adult, Cellular and Molecular Neuroscience, Megalocornea, Lens, Crystalline, Humans, Medicine, Child, Ectopia lentis, business.industry, Mean age, General Medicine, Axial length, medicine.disease, Sensory Systems, Ophthalmology, Child, Preschool, business, Nuclear medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a802589c293adc7cdf5a23624fc196f9Test
https://doi.org/10.1159/000517384Test -
4
المصدر: International Ophthalmology. 40:1789-1795
مصطلحات موضوعية: Uveal Neoplasms, medicine.medical_specialty, genetic structures, Retinal Neoplasms, medicine.medical_treatment, Enucleation, Glaucoma, Megalocornea, Ophthalmology, medicine, Humans, Trabeculectomy, External beam radiotherapy, Hyphema, Intraocular Pressure, Retrospective Studies, business.industry, Plaque radiotherapy, Ciliary Body, medicine.disease, eye diseases, sense organs, Medulloepithelioma, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43fcf225538f76a8923fb3f558849d4dTest
https://doi.org/10.1007/s10792-020-01348-xTest -
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المؤلفون: Graeme C.M. Black, Panagiotis I. Sergouniotis, Siyin Liu
المصدر: American journal of ophthalmology. 233
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Primary (chemistry), business.industry, MEDLINE, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, Middle Aged, medicine.disease, Cornea, Ophthalmology, Megalocornea, Text mining, medicine, Humans, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3657ffe44ef56c29496a1d5de5f9a7faTest
https://pubmed.ncbi.nlm.nih.gov/34587495Test -
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المؤلفون: Alice E. Davidson, Manuela Vaneckova, Stephen J. Tuft, Jana Jedlickova, Martin Hlozanek, Marek Fichtl, Sek-Shir Cheong, Alison J. Hardcastle, Andrea L Vincent, Ales Filous, Lubica Dudakova, Petra Liskova, Pavlina Skalicka
المصدر: Acta ophthalmologicaReferences. 100(4)
مصطلحات موضوعية: Proband, Keratoconus, Pathology, medicine.medical_specialty, genetic structures, Glaucoma, Megalocornea, symbols.namesake, Fuchs heterochromic iridocyclitis, medicine, Humans, Sanger sequencing, business.industry, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, General Medicine, medicine.disease, eye diseases, Neurodevelopmental abnormality, Ophthalmology, medicine.anatomical_structure, Phenotype, symbols, Female, sense organs, business, Cavum septum pellucidum
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d777e88f82ea7281fb8aadbcdb65765Test
https://pubmed.ncbi.nlm.nih.gov/34644435Test -
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المؤلفون: Veit Sturm, Christophe Valmaggia
المصدر: Klinische Monatsblatter fur Augenheilkunde. 238(4)
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Spherophakia, Congenital megalocornea, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, Cornea, Ophthalmology, medicine.anatomical_structure, Lens (anatomy), Lens, Crystalline, medicine, Humans, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18b1ffba13217f5cb706e4f8c494c4ccTest
https://pubmed.ncbi.nlm.nih.gov/33618385Test -
8
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 -
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المؤلفون: Federica Calì, Marco Castori, Anwar Baban, Antonio Novelli, Aurelio Secinaro, Paola Grammatico, Viola Alesi, Fabrizio Drago, Francesca Romana Lepri, Silvia Morlino
المصدر: American Journal of Medical Genetics Part A. 179:104-112
مصطلحات موضوعية: Heart Defects, Congenital, Male, 0301 basic medicine, Marfan syndrome, Systemic disease, Pathology, medicine.medical_specialty, Roma, Adolescent, Iris, 030105 genetics & heredity, Ectopia Lentis, Corneal Diseases, Marfan Syndrome, 03 medical and health sciences, Megalocornea, Transforming Growth Factor beta, Genetics, medicine, Humans, Child, Ectopia lentis, Genetics (clinical), business.industry, Homozygote, Tall Stature, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, Glaucoma, Heart, medicine.disease, eye diseases, Phenotype, 030104 developmental biology, Microspherophakia, Latent TGF-beta Binding Proteins, Great arteries, Dysplasia, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bc3fde4d9ce72fe82633905b3b9db9fTest
https://doi.org/10.1002/ajmg.a.10Test -
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المؤلفون: A A Kasyanov
المصدر: Vestnik oftalmologii. 136(5. Vyp. 2)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Refractive error, genetic structures, medicine.medical_treatment, Refraction, Ocular, Cataract, Megalocornea, Young Adult, Pseudoaccommodation, Lens Implantation, Intraocular, Ophthalmology, Medicine, Humans, Ectopia lentis, Lenses, Intraocular, business.industry, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, Phacoemulsification, Cataract surgery, medicine.disease, eye diseases, sense organs, Clinical case, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83f1b254093a442fd16f1bed4efc5b8dTest
https://pubmed.ncbi.nlm.nih.gov/33063968Test