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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: 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: 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: 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: 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 -
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المؤلفون: Marc Abramowicz, Françoise Meire, Yves Sznajer, Marc Schrooyen, Françoise Roulez, Fanny Depasse, Julie Désir
المصدر: European Journal of Human Genetics
European journal of human geneticsمصطلحات موضوعية: Marfan syndrome, Male, Genetic Linkage, DNA Mutational Analysis, Molecular Sequence Data, Genes, Recessive, Biology, Article, Megalocornea, Microspherophakia, Marfan, Genetics, medicine, Humans, Eye Abnormalities, RNA, Messenger, Ectopia lentis, Child, Genetics (clinical), Base Sequence, Infant, Glaucoma, Syndrome, Sciences bio-médicales et agricoles, medicine.disease, Disease gene identification, Null allele, Exon skipping, Pedigree, Latent TGF-beta Binding Proteins, Child, Preschool, Mutation, microspherophakia, Female, Candidate Gene Analysis, megalocornea
وصف الملف: 1 full-text file(s): application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f77886f931702e3fe9c9b1362394e1cTest
http://europepmc.org/articles/PMC2987369Test -
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المؤلفون: Chlasta-Twardzik, Edyta, Nowińska, Anna, Wąs, Paweł, Jakubowska, Agnieszka, Wylęgała, Edward
المصدر: Medicine
مصطلحات موضوعية: Male, genetic structures, CNV, Cataract Extraction, AMD, Cataract, Optical Coherence Tomography Angiography (OCT-A), Diagnosis, Differential, Eye Injuries, Lens Implantation, Intraocular, Humans, Clinical Case Report, Eye Abnormalities, megalophthalmos anterior, traumatic cataract, Eye Diseases, Hereditary, cataract surgery, Middle Aged, eye diseases, diabetic retinopathy, anti-VEGF, sense organs, Optical Coherence Tomography, megalocornea, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::f76cfd5f355ac7e2fe3c6787fe99f89eTest
http://europepmc.org/articles/PMC5627800Test -
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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 -
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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 -
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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