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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: 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, 2179-2187مصطلحات 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 -
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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: Prasanthi, Namburi, Samer, Khateb, Segev, Meyer, Tom, Bentovim, Rinki, Ratnapriya, Alisa, Khramushin, Anand, Swaroop, Ora, Schueler-Furman, Eyal, Banin, Dror, Sharon
المصدر: Molecular Vision
مصطلحات موضوعية: Adult, Heterozygote, Georgia, Genotype, Color Vision Defects, Retinal Dystrophies, Exome Sequencing, Electroretinography, Humans, Genetic Testing, Fluorescein Angiography, Child, Phylogeny, Sequence Deletion, Aged, 80 and over, Corneal Dystrophies, Hereditary, Histone-Lysine N-Methyltransferase, Middle Aged, eye diseases, Pedigree, Electrooculography, Phenotype, Complement Factor H, Jews, Female, Tomography, Optical Coherence, Transcription Factors, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::1a358d9afc956ed9a446477c85acc510Test
https://pubmed.ncbi.nlm.nih.gov/32476814Test -
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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 -
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المؤلفون: Adva, Kimchi, Samer, Khateb, Rong, Wen, Ziqiang, Guan, Alexey, Obolensky, Avigail, Beryozkin, Shoshi, Kurtzman, Anat, Blumenfeld, Eran, Pras, Samuel G, Jacobson, Tamar, Ben-Yosef, Hadas, Newman, Dror, Sharon, Eyal, Banin
المصدر: Ophthalmology. 125(5)
مصطلحات موضوعية: Adult, Male, Alkyl and Aryl Transferases, Adolescent, DNA Mutational Analysis, Visual Acuity, Middle Aged, Protein Serine-Threonine Kinases, Retina, Pedigree, Young Adult, Jews, Mutation, Exome Sequencing, Electroretinography, Humans, Female, Age of Onset, Israel, Visual Fields, Genetic Association Studies, Retinitis Pigmentosa, Tomography, Optical Coherence, Aged
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::5816cef2cef139b6d90c9bdd33d6978eTest
https://pubmed.ncbi.nlm.nih.gov/31864473Test -
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المؤلفون: Liliana Mizrahi-Meissonnier, Tamar Ben-Yosef, Samer Khateb, Mor Hanany, Segev Meyer, Avigail Beryozkin, Sari Lieberman, Ayat Khalaileh, Dror Sharon, Eyal Banin, Fathieh Abu Turky, Alaa Abu-Diab
المصدر: Journal of medical genetics. 53(9)
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Adolescent, Genomics, Biology, 03 medical and health sciences, Exon, Young Adult, Molecular genetics, Genetics, medicine, Humans, Exome, Child, Genetics (clinical), Exome sequencing, Sequence Deletion, Genetic heterogeneity, Genome, Human, Homozygote, Retinal Degeneration, High-Throughput Nucleotide Sequencing, Exons, Sequence Analysis, DNA, Middle Aged, 030104 developmental biology, Medical genetics, Human genome, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73b8249814d93985822ddfbadaa5031fTest
https://pubmed.ncbi.nlm.nih.gov/27208209Test -
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المؤلفون: Samuel G. Jacobson, Alexis Boleda, Abraham Zlotogorski, Tzipora C. Falik-Zaccai, Jacob Pe'er, Csilla H. Lazar, Itay Chowers, Liliana Mizrahi-Meissonnier, Tamar Ben-Yosef, Linn Gieser, Anand Swaroop, Samer Khateb, Dror Sharon, Avigail Beryozkin, Michal Sagi, Elia Shevah, Eyal Banin, Yitzhak Hemo, Rinki Ratnapriya, Eduard Averbuch, Anat Blumenfeld, Ola Alimi-Kasem, Adva Kimchi
المصدر: Scientific Reports
مصطلحات موضوعية: Adult, Genetic Markers, Male, Population, Mutation, Missense, Biology, Polymorphism, Single Nucleotide, Genetic analysis, Article, symbols.namesake, Retinal Diseases, Risk Factors, Prevalence, Humans, Exome, Genetic Predisposition to Disease, Israel, education, Genetic Association Studies, Exome sequencing, Aged, Aged, 80 and over, Genetics, Sanger sequencing, education.field_of_study, Multidisciplinary, Chromosome Mapping, Sequence Analysis, DNA, Middle Aged, Arabs, Genetic marker, symbols, Female, Human genome, Founder effect
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22385bdd6ef6f93b6ec2c286cccd1b9bTest
https://doi.org/10.1038/srep13187Test