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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: 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 -
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المؤلفون: Marc Alfred C Mangahas, John Mark S. de Leon
المصدر: Digital Journal of Ophthalmology. 27:29-32
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, business.industry, Gonioscopy, Microscopy, Acoustic, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, General Medicine, Slit Lamp Microscopy, medicine.disease, Tonometry, Ocular, Megalocornea, Trabecular Meshwork, Ophthalmology, Optic Nerve Diseases, medicine, Humans, Glaucoma Drainage Implants, business, Glaucoma, Open-Angle, Intraocular Pressure, Tomography, Optical Coherence
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4da3d2aff3b8ded4ee502168fef88d9Test
https://doi.org/10.5693/djo.03.2020.12.003Test -
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المؤلفون: Eran Pras, Yafit Hachmo, Nadav Shoshany, Anat Maytal, Carine Michiels, Noam Shomron, Chen Weiner, Fani Segev, Adi Einan-Lifshitz, Idan Hecht, David Zadok, Alina Kotlyar, Olivier De Backer, Uri Elbaz
المصدر: Weiner, C, Hecht, I, Kotlyar, A, Shoshany, N, Zadok, D, Elbaz, U, Segev, F, Maytal, A, Hachmo, Y, Michiels, C, De Backer, O, Shomron, N, Einan-Lifshitz, A & Pras, E 2021, ' Association of Variants in TMEM45A With Keratoglobus ', JAMA ophthalmology, vol. 139, no. 10, pp. 1089-1095 . https://doi.org/10.1001/jamaophthalmol.2021.3172Test
JAMA Ophthalmolمصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Keratoconus, Compound heterozygosity, Cornea, Mice, Megalocornea, symbols.namesake, medicine, Animals, Humans, Eye Abnormalities, Child, Original Investigation, Sanger sequencing, business.industry, Genetic disorder, Membrane Proteins, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, Corneal perforation, medicine.disease, eye diseases, Corneal Disorder, Ophthalmology, medicine.anatomical_structure, symbols, Female, business, Keratoglobus
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40c963751be13fc560241ee87ea25bceTest
https://doi.org/10.1001/jamaophthalmol.2021.3172Test -
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المؤلفون: Aparna Rao, Rakhi P Dcruz
المصدر: BMJ Case Reports. 14:e244350
مصطلحات موضوعية: Male, medicine.medical_specialty, genetic structures, Glaucoma, Aphakia, Megalocornea, Rare Diseases, Ophthalmology, medicine, Humans, Eye Abnormalities, Iridodonesis, Intraocular Pressure, business.industry, Deep anterior chamber, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, General Medicine, Middle Aged, medicine.disease, eye diseases, Aniridia, Optic nerve, sense organs, business, Rare disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::608b3b0867dea8bc679a6a582fb6656dTest
https://doi.org/10.1136/bcr-2021-244350Test -
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المؤلفون: Kristina Vollbach, Sonja Trepels-Kottek, Norbert Wagner, Miriam Elbracht, Ingo Kurth, Thorsten Orlikowsky, Klaus Tenbrock, Till Braunschweig
المصدر: European Journal of Medical Genetics. 64:104209
مصطلحات موضوعية: Male, Alveolar capillary dysplasia, medicine.medical_specialty, medicine.medical_treatment, Persistent Fetal Circulation Syndrome, Pulmonary heart disease, Megalocornea, Pulmonary Heart Disease, Internal medicine, Genetics, medicine, Humans, Ectopia lentis, Genetics (clinical), Mechanical ventilation, business.industry, Macrocephaly, Infant, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, Glaucoma, General Medicine, medicine.disease, Pathophysiology, Pulmonary Alveoli, Phenotype, Latent TGF-beta Binding Proteins, Respiratory failure, Pulmonary Veins, Cardiology, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03aaba02c9691226e6b8a3549ee96790Test
https://doi.org/10.1016/j.ejmg.2021.104209Test -
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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 -
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المؤلفون: Nicola Perrotti, Teresa Grillone, Rodolfo Iuliano, Vincenzo Scorcia, Domenica Mangialavori, Adriano Carnevali, Emma Colao, D Bruzzichessi
المصدر: Cornea. 34:976-979
مصطلحات موضوعية: Male, Proband, DNA Mutational Analysis, Nerve Tissue Proteins, Biology, Polymerase Chain Reaction, Megalocornea, Exon, medicine, Humans, Coding region, Child, Eye Proteins, Gene, Sequence Deletion, Genetics, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, Middle Aged, medicine.disease, Stop codon, Pedigree, Ophthalmology, genomic DNA, Child, Preschool, Mutation (genetic algorithm)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28fbdfd36aad3ac4326220b3d1bfbd37Test
https://doi.org/10.1097/ico.0000000000000472Test