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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: 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: 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: Alaa AlTalbishi, Moien Kanaan, Boris Rosin, Itay Chowers, Lara Kamal, Alaa Abu Diab, Eyal Banin, Samer Khateb, Anand Swaroop, Dror Sharon
المصدر: Acta ophthalmologica. 97(6)
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Microcephaly, Nonsense mutation, DNA Mutational Analysis, Carboxypeptidases, Retina, Young Adult, Retinitis pigmentosa, Retinal Dystrophies, Exome Sequencing, Electroretinography, Medicine, Missense mutation, Humans, Exome, Exome sequencing, Cohen syndrome, business.industry, Homozygote, General Medicine, DNA, medicine.disease, Pedigree, VPS13B, Ophthalmology, Electrooculography, Mutation, Female, business, Kabuki syndrome, Tomography, Optical Coherence
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::492d6124124f1df41865749f78a3d303Test
https://pubmed.ncbi.nlm.nih.gov/30925032Test -
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المؤلفون: Samer Khateb, Alaa Abu-Diab, Ayat Khalaileh, Yahya AlSwaiti, Annick Raas-Rothschild, Eyal Banin, Tamar Ben-Yosef, Itay Chowers, Dror Sharon, Israela Lerer
المصدر: Investigative ophthalmologyvisual science. 59(2)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Genotype, Usher syndrome, DNA Mutational Analysis, Consanguinity, Biology, Myosins, Genetic analysis, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, 03 medical and health sciences, symbols.namesake, Young Adult, otorhinolaryngologic diseases, medicine, Ethnicity, Humans, Genetic Testing, Israel, Child, Exome sequencing, Genetic testing, Genetics, Sanger sequencing, Extracellular Matrix Proteins, medicine.diagnostic_test, Membrane Proteins, medicine.disease, Disease gene identification, Founder Effect, Arabs, Pedigree, 030104 developmental biology, Myosin VIIa, Mutation, symbols, Female, Usher Syndromes, Founder effect
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::627996176dca42ada96fb48c7996662dTest
https://pubmed.ncbi.nlm.nih.gov/29490346Test -
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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: Ann Saada, Carlo Rivolta, Alexey Obolensky, Dror Sharon, Thomas Dierks, Netta Pollack, Tamar Ben-Yosef, Samer Khateb, Markus Damme, Nicola Bedoni, Eyal Banin, Menachem Gross, Björn Kowalewski
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 20(9)
مصطلحات موضوعية: 0301 basic medicine, Retinal degeneration, Adult, Male, Hearing loss, Usher syndrome, DNA Mutational Analysis, Mutation, Missense, Biology, Retina, 03 medical and health sciences, 0302 clinical medicine, Retinitis pigmentosa, Exome Sequencing, medicine, Lysosomal storage disease, Missense mutation, Humans, whole-exome sequencing, Genetics (clinical), Exome sequencing, Arylsulfatases, Genetics, Base Sequence, Whole Genome Sequencing, Homozygote, Retinal Degeneration, arylsulfatase G, syndrome, medicine.disease, Founder Effect, Pedigree, 030104 developmental biology, lysosomal storage disease, Mutation, Sensorineural hearing loss, Female, medicine.symptom, Usher Syndromes, 030217 neurology & neurosurgery, Retinitis Pigmentosa, Usher
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::458c0e69a3477eb97646a55ca3c9f4b1Test
https://pubmed.ncbi.nlm.nih.gov/29300381Test -
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المؤلفون: Menachem Gross, Liliana Mizrahi-Meissonnier, Uri Laxer, Eyal Banin, Robert K. Koenekoop, Dror Sharon, Lina Zelinger, Samer Khateb, Carmen Ayuso
المصدر: Journal of medical genetics. 51(7)
مصطلحات موضوعية: Male, Heterozygote, Usher syndrome, media_common.quotation_subject, Nonsense, Nonsense mutation, DNA Mutational Analysis, Cell Cycle Proteins, Biology, Autoantigens, Polymorphism, Single Nucleotide, Consanguinity, Retinitis pigmentosa, otorhinolaryngologic diseases, Genetics, medicine, Humans, Genetic Predisposition to Disease, Eye Proteins, Genetics (clinical), Exome sequencing, Phylogeny, media_common, Base Sequence, Homozygote, medicine.disease, Disease gene identification, Pedigree, Codon, Nonsense, Mutation (genetic algorithm), Sensorineural hearing loss, Female, Usher Syndromes, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4ec7f5b1b81a12315593b156bb263abTest
https://pubmed.ncbi.nlm.nih.gov/24780881Test -
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المؤلفون: Ornit Crystal-Shalit, Lina Zelinger, Dror Sharon, Tamar Ben-Yosef, Menachem Gross, Saul Merin, Samer Khateb, Eyal Banin
المصدر: PLoS ONE
PLoS ONE, Vol 7, Iss 12, p e51566 (2012)مصطلحات موضوعية: Male, Genetic Screens, DNA Mutational Analysis, lcsh:Medicine, Cell Cycle Proteins, Autosomal Recessive, Chromosome Segregation, Exome, Age of Onset, Israel, lcsh:Science, Frameshift Mutation, Exome sequencing, Genetics, Multidisciplinary, Homozygote, Exons, Disease gene identification, Founder Effect, Pedigree, Phenotype, Medicine, Retinal Disorders, Female, Sensorineural hearing loss, medicine.symptom, Sequence Analysis, Retinitis Pigmentosa, Research Article, Hearing loss, Molecular Sequence Data, Genes, Recessive, Biology, Polymorphism, Single Nucleotide, Frameshift mutation, Audiometry, Retinitis pigmentosa, otorhinolaryngologic diseases, medicine, Humans, Hearing Loss, Adaptor Proteins, Signal Transducing, Clinical Genetics, Base Sequence, Genome, Human, lcsh:R, Computational Biology, Sequence Analysis, DNA, medicine.disease, Ophthalmology, Alternative Splicing, Cytoskeletal Proteins, Genetics of Disease, Genetic Polymorphism, lcsh:Q, Population Genetics, Founder effect
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a841674b2e3680c8f9e7fe50bcdd6cf1Test
https://doi.org/10.1371/journal.pone.0051566Test