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المؤلفون: Bernd Wissinger, Eberhart Zrenner, Nikolas Pontikos, Maria Inmaculada Martin-Merida, Xuan-Thanh-An Nguyen, Anthony G. Robson, Emanuel R. de Carvalho, Kazushige Tsunoda, Omar A. Mahroo, Alberta A H J Thiadens, Mauricio E Vargas, Fadi Nasser, Kaoru Fujinami, Gavin Arno, Rachel M. Huckfeldt, Ester Carreño, Thales Antonio Cabral de Guimaraes, Ayuso Carmen, Takaaki Hayashi, Michel Michaelides, Elise Héon, Xiao Liu, Dror Sharon, Ajoy Vincent, Mark E. Pennesi, Michalis Georgiou, Arif O. Khan, Andrew R. Webster, Yu Fujinami-Yokokawa, Gema Gordo, Eyal Banin, Shaun Michael Leo, Susanne Kohl, Belen Jimenez-Rolando, Camiel J. F. Boon, Samer Khateb
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 INCمصطلحات 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 -
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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: Itay Chowers, Khaled Safadi, Samer Khateb
المصدر: Acta Ophthalmologica. 99:892-897
مصطلحات موضوعية: Adult, Male, Pars plana, medicine.medical_specialty, Visual acuity, Adolescent, genetic structures, medicine.medical_treatment, Visual Acuity, Vitrectomy, Scleral buckle, Young Adult, Ophthalmology, medicine, Humans, Macula Lutea, Young adult, Retrospective Studies, Surgical repair, business.industry, Retinal Detachment, Retinal detachment repair, Retinal detachment, General Medicine, medicine.disease, eye diseases, Scleral Buckling, medicine.anatomical_structure, Female, medicine.symptom, business, Tomography, Optical Coherence, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c52d1b02e6bcefb880fb33d1185d7c56Test
https://doi.org/10.1111/aos.14783Test -
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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: Inbal Sharvit-Ginon, Eran Pras, Jaime Levy, Ifat Sher, Estela Derazne, Amit Hamburg, Mohamad O Mhajna, Samer Khateb, Hadas Newman, Ygal Rotenstreich, Daniel Ben Ner, Ron Chibel, Dror Sharon
المصدر: Clinical Ophthalmology. 13:465-475
مصطلحات موضوعية: medicine.medical_specialty, Visual acuity, genetic structures, business.industry, Area under the curve, Pupil, Visual field, 03 medical and health sciences, Ophthalmology, 0302 clinical medicine, Standard error, 030221 ophthalmology & optometry, medicine, Pupillary response, Chromatic scale, Pupillary light reflex, medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4551890174bb63a55d65b3cc405558d0Test
https://doi.org/10.2147/opth.s191486Test -
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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: 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: Alexey Obolensky, Ziqiang Guan, Eyal Banin, Shoshi Kurtzman, Hadas Newman, Tamar Ben-Yosef, Eran Pras, Samer Khateb, Avigail Beryozkin, Anat Blumenfeld, Adva Kimchi, Samuel G. Jacobson, Dror Sharon, Rong Wen
المصدر: Ophthalmology. 125:725-734
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, education.field_of_study, Mutation, Visual acuity, medicine.diagnostic_test, business.industry, Population, medicine.disease, medicine.disease_cause, 03 medical and health sciences, Ophthalmology, 030104 developmental biology, 0302 clinical medicine, Internal medicine, Cohort, Retinitis pigmentosa, 030221 ophthalmology & optometry, medicine, Age of onset, medicine.symptom, education, business, Exome sequencing, Electroretinography
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cacccb67761a87e9684d6d71816ab135Test
https://doi.org/10.1016/j.ophtha.2017.11.014Test -
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المؤلفون: Saddek Mohand-Said, Marco Nassisi, Samer Khateb, Christina Zeitz, Aline Antonio, Cécile Méjécase, Vanessa Démontant, Kinga M. Bujakowska, José-Alain Sahel, Isabelle Audo, Marine Foussard, Christel Condroyer
المصدر: JAMA ophthalmology. 137(6)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Visual acuity, Adolescent, Genotyping Techniques, DNA Mutational Analysis, Visual Acuity, Physical examination, 01 natural sciences, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Internal medicine, Retinitis pigmentosa, Genotype, Rod-cone dystrophy, Electroretinography, Medicine, Humans, 0101 mathematics, Young adult, Child, Eye Proteins, Genetic Association Studies, Retrospective Studies, Cyclic Nucleotide Phosphodiesterases, Type 6, medicine.diagnostic_test, Color Vision, business.industry, 010102 general mathematics, Optical Imaging, Retrospective cohort study, Middle Aged, medicine.disease, Ophthalmology, Child, Preschool, Cohort, Mutation, 030221 ophthalmology & optometry, Female, medicine.symptom, business, Cone-Rod Dystrophies, Retinitis Pigmentosa, Tomography, Optical Coherence, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fd5343d248438ca75de542edd4130d0Test
https://pubmed.ncbi.nlm.nih.gov/30998807Test