نتائج البحث - "Samer Khateb"

المصدر: American journal of ophthalmology, 230, 1-11. Elsevier USA
American Journal of Ophthalmology, 230, 1-11. Elsevier Inc.
American Journal of Ophthalmology, 230. ELSEVIER SCIENCE INC
American Journal of Ophthalmology

مصطلحات موضوعية: medicine.medical_specialty, genetic structures, Fundus Oculi, Retina, Foveola, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Retinal Diseases, Optical coherence tomography, Ophthalmology, medicine, Humans, Fluorescein Angiography, Outer nuclear layer, Retrospective Studies, 030304 developmental biology, 0303 health sciences, Retinal pigment epithelium, medicine.diagnostic_test, business.industry, Retinal, medicine.disease, eye diseases, Autofluorescence, Phenotype, medicine.anatomical_structure, chemistry, Potassium Channels, Voltage-Gated, 030221 ophthalmology & optometry, Original Article, sense organs, business, Tomography, Optical Coherence, Retinopathy

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25d64991d77208076740a746fc4a5daaTest
http://www.scopus.com/inward/record.url?scp=85108876875&partnerID=8YFLogxKTest

6

KCNV2-Associated Retinopathy

المساهمون: Ophthalmology, ANS - Complex Trait Genetics

المصدر: American journal of ophthalmology, 225, 95-107. Elsevier USA
American Journal of Ophthalmology, 225, 95-107. Elsevier Inc.
American Journal of Ophthalmology
American Journal of Ophthalmology, 225, 95-107. ELSEVIER SCIENCE INC

مصطلحات موضوعية: Male, Visual acuity, Photophobia, genetic structures, Visual Acuity, 0302 clinical medicine, Child, Genetics, 0303 health sciences, medicine.diagnostic_test, High-Throughput Nucleotide Sequencing, Middle Aged, Phenotype, Potassium Channels, Voltage-Gated, Child, Preschool, Decreased Visual Acuity, Cohort, Female, Original Article, medicine.symptom, Erg, Retinitis Pigmentosa, Tomography, Optical Coherence, Retinopathy, Adult, Adolescent, Vision Disorders, Dark Adaptation, Refraction, Ocular, Nyctalopia, Retina, 03 medical and health sciences, Exome Sequencing, medicine, Electroretinography, Humans, Molecular Biology, Alleles, 030304 developmental biology, Aged, Retrospective Studies, Whole Genome Sequencing, business.industry, Infant, Newborn, Infant, medicine.disease, eye diseases, Ophthalmology, 030221 ophthalmology & optometry, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25c2d32445ffc5056e59894108f29ff3Test
http://www.scopus.com/inward/record.url?scp=85101977838&partnerID=8YFLogxKTest

7

Homozygous Knockout of Cep250 Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in Mice

المؤلفون: Alaa Abu-Diab, Prakadeeswari Gopalakrishnan, Chen Matsevich, Marije de Jong, Alexey Obolensky, Ayat Khalaileh, Manar Salameh, Ayala Ejzenberg, Menachem Gross, Eyal Banin, Dror Sharon, Samer Khateb

المصدر: Translational Vision Science & Technology. 12:3

مصطلحات موضوعية: Ophthalmology, Biomedical Engineering

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9742e9074e4c4d90bf8e62d86e471a3dTest
https://doi.org/10.1167/tvst.12.3.3Test

8

Outcomes of primary rhegmatogenous retinal detachment repair among young adult patients

المؤلفون: Itay Chowers, Khaled Safadi, Samer Khateb

المصدر: Acta Ophthalmologica. 99:892-897

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c52d1b02e6bcefb880fb33d1185d7c56Test
https://doi.org/10.1111/aos.14783Test

9

SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis

المؤلفون: Mor Hanany, Oded Volovelsky, Claudia Yahalom, Michal Macarov, Alaa AlTalbishi, Muhammad Imran Khan, Dror Sharon, Irene Anteby, Samer Khateb, Frans P.M. Cremers, Yahya Alsweiti, Eyal Banin, Nina Schneider

المصدر: Retina-The Journal of Retinal and Vitreous Diseases, 41, 10, pp. 2179-2187
Retina-The Journal of Retinal and Vitreous Diseases, 41, 2179-2187

مصطلحات موضوعية: 0301 basic medicine, Retinal degeneration, Male, Pediatrics, DNA Mutational Analysis, Leber Congenital Amaurosis, 030232 urology & nephrology, Visual Acuity, medicine.disease_cause, Genetic analysis, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 0302 clinical medicine, Child, Sanger sequencing, Mutation, Color Perception Tests, General Medicine, Kidney Diseases, Cystic, Middle Aged, Pedigree, Phenotype, Molecular Diagnostic Techniques, Child, Preschool, Cohort, symbols, Female, medicine.medical_specialty, Adolescent, Senior–Løken syndrome, Retina, 03 medical and health sciences, symbols.namesake, Young Adult, Optic Atrophies, Hereditary, Retinitis pigmentosa, Exome Sequencing, medicine, Electroretinography, Humans, Adaptor Proteins, Signal Transducing, Retrospective Studies, business.industry, Infant, Proteins, Retrospective cohort study, medicine.disease, Ciliopathies, Ophthalmology, Cytoskeletal Proteins, 030104 developmental biology, Visual Field Tests, Calmodulin-Binding Proteins, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8573dc79d5d0126e6db7a5209bd64858Test
https://hdl.handle.net/2066/237903Test

10

Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations

المؤلفون: Mor Hanany, Hadas Newman, Tamar Ben-Yosef, Eedy Mezer, Frans P.M. Cremers, Eyal Banin, Alexey Obolensky, Itay Chowers, Samer Khateb, Muhammad Imran Khan, Avigail Beryozkin, Dror Sharon, Carlos Alberto Idrobo-Robalino

المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-12 (2020)
Scientific Reports, 10, 1
Scientific Reports, 10
Scientific Reports

مصطلحات موضوعية: Male, 0301 basic medicine, Visual acuity, genetic structures, Visual Acuity, lcsh:Medicine, Diseases, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Cohort Studies, 0302 clinical medicine, Night Blindness, Israel, Child, Signs and symptoms, lcsh:Science, Aged, 80 and over, education.field_of_study, Multidisciplinary, Clinical pathology, medicine.diagnostic_test, Middle Aged, medicine.anatomical_structure, Child, Preschool, Female, medicine.symptom, Retinitis Pigmentosa, Tomography, Optical Coherence, Adult, medicine.medical_specialty, Adolescent, Fundus Oculi, Population, Nonsense mutation, Genes, Recessive, Article, Young Adult, 03 medical and health sciences, Medical research, All institutes and research themes of the Radboud University Medical Center, Ophthalmology, Retinitis pigmentosa, Electroretinography, medicine, Genetics, Humans, Allele, Eye Proteins, Outer nuclear layer, education, Alleles, Aged, business.industry, lcsh:R, medicine.disease, eye diseases, 030104 developmental biology, Jews, Mutation, 030221 ophthalmology & optometry, lcsh:Q, sense organs, Visual Fields, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::827c9bb9588d9d53c56e9c32f3396dfaTest
http://link.springer.com/article/10.1038/s41598-020-72028-0Test

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