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المؤلفون: Kazushige Tsunoda, Camiel J. F. Boon, Ester Carreño, Xiao Liu, Rachel M. Huckfeldt, Mark E. Pennesi, Andrew R. Webster, Anthony G. Robson, Elise Héon, Gavin Arno, Susanne Kohl, Belen Jimenez-Rolando, Michel Michaelides, Carmen Ayuso, Omar A. Mahroo, Eyal Banin, Samer Khateb, Takaaki Hayashi, Bernd Wissinger, Arif O. Khan, Eberhart Zrenner, Alberta A H J Thiadens, Ajoy Vincent, Nikolas Pontikos, Maria Inmaculada Martin-Merida, Thales Antonio Cabral de Guimaraes, Xuan-Thanh-An Nguyen, Michalis Georgiou, Almudena Avila-Fernandez, Mauricio E Vargas, Emanuel R. de Carvalho, Shaun Michael Leo, Yu Fujinami-Yokokawa, Dror Sharon, Fadi Nasser, Kaoru Fujinami, Blanca Garcia-Sandoval
المساهمون: Ophthalmology, ANS - Complex Trait Genetics
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 Ophthalmologyمصطلحات 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 -
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المؤلفون: Samer Khateb, Tareq Jaouni, Michael Halpert, Hamzah Aweidah
المصدر: Case Reports in Ophthalmology
Case Reports in Ophthalmology, Vol 12, Iss 2, Pp 464-472 (2021)مصطلحات موضوعية: Pars plana, medicine.medical_specialty, Proliferative vitreoretinopathy, Visual acuity, genetic structures, medicine.medical_treatment, Vitrectomy, Case Report, Primary repair, Post-operative, Epiretinal membrane, Ophthalmology, Medicine, business.industry, Retinal detachment, RE1-994, medicine.disease, eye diseases, Macular function, medicine.anatomical_structure, Macular pucker, sense organs, medicine.symptom, business, Macular proliferative vitreoretinopathy, Premacular membrane
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e496670352dc366b1234a839740b2ecTest
http://europepmc.org/articles/PMC8215993Test -
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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 Reportsمصطلحات 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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المؤلفون: Samer Khateb, Christel Condroyer, Crystel Bonnet, Marco Nassisi, Christina Zeitz, Natalie Loundon, Céline Devisme, Christine Petit, Anne-Françoise Roux, Bahram Bodaghi, Saddek Mohand-Said, Sandrine Marlin, Aline Antonio, José-Alain Sahel, Isabelle Audo, Camille Andrieu
المساهمون: The Hebrew University of Jerusalem (HUJ), Institut de la Vision, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Génétique et Physiologie de l'Audition, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de référence des Surdités Génétiques [CHU Necker, Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Collège de France - Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Fondation Ophtalmologique Adolphe de Rothschild [Paris], University of Pittsburgh School of Medicine, Pennsylvania Commonwealth System of Higher Education (PCSHE), Académie des Sciences [Paris], Institut de France, University College of London [London] (UCL), Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Centre de référence des Surdités Génétiques, Chaire Génétique et physiologie cellulaire, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Académie des Sciences
المصدر: RETINA. The Journal of Retinal and Vitreous Diseases
RETINA. The Journal of Retinal and Vitreous Diseases, 2020, 40 (8), pp.1603-1615. ⟨10.1097/IAE.0000000000002636⟩
RETINA
RETINA, Lippincott, Williams & Wilkins, 2020, 40 (8), pp.1603-1615. ⟨10.1097/IAE.0000000000002636⟩مصطلحات موضوعية: Male, 0301 basic medicine, Visual acuity, genetic structures, [SDV]Life Sciences [q-bio], DNA Mutational Analysis, Visual Acuity, Polymerase Chain Reaction, 0302 clinical medicine, Medicine, Child, Usher Syndrome Type 1, General Medicine, Middle Aged, Pedigree, Visual field, Phenotype, Child, Preschool, Myosin VIIa, Cohort, Female, France, medicine.symptom, Usher Syndromes, Tomography, Optical Coherence, Adult, medicine.medical_specialty, Adolescent, Young Adult, 03 medical and health sciences, Ophthalmology, Genetic variation, Electroretinography, Rod-cone dystrophy, Humans, Genetic Association Studies, Retrospective Studies, business.industry, Infant, Dystrophy, Retrospective cohort study, 030104 developmental biology, Mutation, 030221 ophthalmology & optometry, Visual Field Tests, sense organs, Visual Fields, business, Cone-Rod Dystrophies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57ad65d59b4d2f6000268c6ab12ff1afTest
https://doi.org/10.1097/iae.0000000000002636Test -
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المؤلفون: Michal Macarov, Karen Hendler, Anat Blumenfeld, Claudia Yahalom, Orly Wussuki-Lior, Samer Khateb, Mordechai Shohat
المصدر: Graefe's Archive for Clinical and Experimental Ophthalmology. 256:2157-2164
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Visual acuity, PAX6 Transcription Factor, genetic structures, Mutation, Missense, Visual Acuity, Vision, Low, 030105 genetics & heredity, Blindness, Refraction, Ocular, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Ophthalmology, Humans, Medicine, Child, Aniridia, Aged, Retrospective Studies, Genetic testing, medicine.diagnostic_test, business.industry, Corectopia, Genetic heterogeneity, Eye Diseases, Hereditary, Middle Aged, medicine.disease, eye diseases, Sensory Systems, Hypoplasia, Pedigree, Phenotype, Child, Preschool, 030221 ophthalmology & optometry, Female, sense organs, PAX6, medicine.symptom, Differential diagnosis, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2fccc4f3bac13608bfc16e55cedb6c8Test
https://doi.org/10.1007/s00417-018-4119-1Test -
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المؤلفون: Samer Khateb, Shekhar Jha, Kapil Bharti, Eyal Banin
المصدر: Age-related Macular Degeneration ISBN: 9783030660130
مصطلحات موضوعية: Retina, medicine.medical_specialty, Retinal pigment epithelium, genetic structures, business.industry, Cell, Macular degeneration, medicine.disease, Embryonic stem cell, eye diseases, Photoreceptor cell, Transplantation, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Ophthalmology, medicine, sense organs, 030212 general & internal medicine, Induced pluripotent stem cell, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c6e088e0cdfe16bc6596ef53abc03dbcTest
https://doi.org/10.1007/978-3-030-66014-7_11Test -
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المؤلفون: Hamzah Aweidah, Tamar Ben-Yosef, Oscar Iguzquiza, Frans P.M. Cremers, Roque Daniel Carrero Valenzuela, Myriam Berman, Muhammad Imran Khan, Dror Sharon, Radgonde Amer, Samer Khateb, Avigail Beryozkin, Anand Swaroop, Eyal Banin
المصدر: Frontiers in Cell and Developmental Biology, 9
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Frontiers in Cell and Developmental Biologyمصطلحات موضوعية: Retinal degeneration, medicine.medical_specialty, Visual acuity, genetic structures, QH301-705.5, Posterior pole, genotype-phenotype correlation, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Cell and Developmental Biology, Ophthalmology, Retinitis pigmentosa, Medicine, Missense mutation, RPGRIP1, Biology (General), Original Research, medicine.diagnostic_test, business.industry, Dystrophy, Cell Biology, medicine.disease, eye diseases, natural history, retinal degeneration, mutation spectrum, sense organs, Age of onset, medicine.symptom, business, Developmental Biology, Electroretinography
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91bc64e58addb9fbf8c489471a9aa339Test
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المؤلفون: Diego Almeida, Radgonde Amer, Itay Chowers, Sarah Elbaz-Hayoun, Samer Khateb, Batya Rinsky, Shira Hagbi-Levi, Michelle Grunin, Gala Beykin, Liran Tiosano
المصدر: Investigative Ophthalmology & Visual Science
مصطلحات موضوعية: Male, Proteome, Visual Acuity, Enzyme-Linked Immunosorbent Assay, Serpin, Proteomics, Retina, Aqueous Humor, Endopeptidase activity, Platelet degranulation, Humans, Cellular protein metabolic process, Eye Proteins, age- related macular degeneration, Aged, Aged, 80 and over, Clusterin, biology, Molecular biology, eye diseases, ROC Curve, Wet Macular Degeneration, retinal degeneration, biology.protein, Biomarker (medicine), Female, sense organs, Biomarkers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4af9d926e619df2c5821fdad4816991Test
https://doi.org/10.1167/iovs.62.10.18Test -
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المؤلفون: Samer Khateb, Radgonde Amer, Alaa AlTalbishi
المصدر: European Journal of Ophthalmology. 25:e84-e87
مصطلحات موضوعية: Adult, medicine.medical_specialty, Pathology, Blood–retinal barrier, Gestational Age, Retinal Pigment Epithelium, Serous Retinal Detachment, Preeclampsia, Pre-Eclampsia, Optical coherence tomography, Ischemia, Pregnancy, Ophthalmology, Blood-Retinal Barrier, Humans, Medicine, Fluorescein Angiography, Eclampsia, Proteinuria, medicine.diagnostic_test, Choroid, business.industry, Retinal Detachment, General Medicine, medicine.disease, Fluorescein angiography, eye diseases, medicine.anatomical_structure, Acute Disease, Female, sense organs, medicine.symptom, business, Complication, Tomography, Optical Coherence
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3433cf9415cc41c7f30217667b8a2b60Test
https://doi.org/10.5301/ejo.5000586Test -
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المؤلفون: Tamar Ben-Yosef, Alexey Obolensky, Yael Kinarty, Menachem Gross, Eyal Banin, Samer Khateb, Rinki Ratnapriya, Csilla H. Lazar, Inbar Erdinest, Dror Sharon, Hadas Newman, Prasanthi Namburi, Eran Pras, Anand Swaroop, Devorah Marks-Ohana
المصدر: American journal of human genetics. 99(5)
مصطلحات موضوعية: Adult, 0301 basic medicine, genetic structures, Hearing Loss, Sensorineural, Usher syndrome, Cell Cycle Proteins, Biology, 030105 genetics & heredity, medicine.disease_cause, Autoantigens, Frameshift mutation, Young Adult, Exon, 03 medical and health sciences, Retinal Rod Photoreceptor Cells, Report, medicine, Genetics, Humans, Genetics(clinical), RNA, Messenger, Allele, Child, Frameshift Mutation, Alleles, Genetics (clinical), Sequence Deletion, Retina, Mutation, Homozygote, Correction, Exons, medicine.disease, Disease gene identification, medicine.anatomical_structure, 030104 developmental biology, Retinal Cone Photoreceptor Cells, Sensorineural hearing loss, sense organs, Usher Syndromes, Cone-Rod Dystrophies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::920146a14617e9979f2a602f307d24e2Test
https://pubmed.ncbi.nlm.nih.gov/27588452Test